Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 1_28 717.3333333333334 931.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7541790;Dbxref=PMID:7541790 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 29_661 717.3333333333334 931.0 not_retained Chain ID=PRO_0000016541;Note=70 kDa inter-alpha-trypsin inhibitor heavy chain H4 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 662_688 717.3333333333334 931.0 not_retained Propeptide ID=PRO_0000016542;Note=Potentially active peptide Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 689_930 717.3333333333334 931.0 not_retained Chain ID=PRO_0000016543;Note=35 kDa inter-alpha-trypsin inhibitor heavy chain H4 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 29_148 717.3333333333334 931.0 not_retained Domain Note=VIT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00801 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 272_432 717.3333333333334 931.0 not_retained Domain Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 658_688 717.3333333333334 931.0 not_retained Region Note=Proline-rich (PRR) potential bioactive peptide Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 719_725 717.3333333333334 931.0 retained Region Note=O-glycosylated at three sites Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 688_689 717.3333333333334 931.0 not_retained Site Note=Cleavage%3B by kallikrein Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 81_81 717.3333333333334 931.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:24884609;Dbxref=PMID:16335952,PMID:19159218,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 207_207 717.3333333333334 931.0 not_retained Sequence conflict Note=N->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 274_274 717.3333333333334 931.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine%3B atypical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24884609;Dbxref=PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 517_517 717.3333333333334 931.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:24884609;Dbxref=PMID:14760718,PMID:16335952,PMID:19159218,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 577_577 717.3333333333334 931.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:24884609;Dbxref=PMID:16335952,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 719_719 717.3333333333334 931.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3T052 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 720_720 717.3333333333334 931.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22171320;Dbxref=PMID:22171320 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 722_722 717.3333333333334 931.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3T052 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 747_925 717.3333333333334 931.0 retained Disulfide bond Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 621_650 717.3333333333334 931.0 not_retained Alternative sequence ID=VSP_002761;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:16271702,ECO:0000303|Ref.7;Dbxref=PMID:14702039,PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 727_765 717.3333333333334 931.0 retained Alternative sequence ID=VSP_044764;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16271702;Dbxref=PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 727_727 717.3333333333334 931.0 retained Alternative sequence ID=VSP_002762;Note=In isoform 2. A->ACPSCSRSRAPAVPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 851_866 717.3333333333334 931.0 retained Alternative sequence ID=VSP_044765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16271702;Dbxref=PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 85_85 717.3333333333334 931.0 not_retained Sequence conflict Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 86_86 717.3333333333334 931.0 not_retained Natural variant ID=VAR_013836;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12147176;Dbxref=PMID:12147176 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 669_669 717.3333333333334 931.0 not_retained Natural variant ID=VAR_027870;Note=Q->L;Dbxref=dbSNP:rs2276814 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 698_698 717.3333333333334 931.0 not_retained Natural variant ID=VAR_027871;Note=P->T;Dbxref=dbSNP:rs4687657 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 714_714 717.3333333333334 931.0 not_retained Natural variant ID=VAR_027872;Note=M->I;Dbxref=dbSNP:rs2256734 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 791_791 717.3333333333334 931.0 retained Natural variant ID=VAR_027873;Note=L->P;Dbxref=dbSNP:rs2535621 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 85_85 717.3333333333334 931.0 not_retained Sequence conflict Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 114_114 717.3333333333334 931.0 not_retained Sequence conflict Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 207_207 717.3333333333334 931.0 not_retained Sequence conflict Note=N->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 221_221 717.3333333333334 931.0 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 307_307 717.3333333333334 931.0 not_retained Sequence conflict Note=R->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 322_322 717.3333333333334 931.0 not_retained Sequence conflict Note=W->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 370_370 717.3333333333334 931.0 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 816_817 717.3333333333334 931.0 retained Sequence conflict Note=ET->QR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 905_905 717.3333333333334 931.0 retained Sequence conflict Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000266041 Q14624 17 24 927_927 717.3333333333334 931.0 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 1_28 687.3333333333334 915.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7541790;Dbxref=PMID:7541790 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 29_661 687.3333333333334 915.0 not_retained Chain ID=PRO_0000016541;Note=70 kDa inter-alpha-trypsin inhibitor heavy chain H4 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 662_688 687.3333333333334 915.0 not_retained Propeptide ID=PRO_0000016542;Note=Potentially active peptide Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 689_930 687.3333333333334 915.0 retained Chain ID=PRO_0000016543;Note=35 kDa inter-alpha-trypsin inhibitor heavy chain H4 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 29_148 687.3333333333334 915.0 not_retained Domain Note=VIT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00801 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 272_432 687.3333333333334 915.0 not_retained Domain Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 658_688 687.3333333333334 915.0 not_retained Region Note=Proline-rich (PRR) potential bioactive peptide Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 719_725 687.3333333333334 915.0 retained Region Note=O-glycosylated at three sites Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 688_689 687.3333333333334 915.0 retained Site Note=Cleavage%3B by kallikrein Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 81_81 687.3333333333334 915.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:24884609;Dbxref=PMID:16335952,PMID:19159218,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 207_207 687.3333333333334 915.0 not_retained Sequence conflict Note=N->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 274_274 687.3333333333334 915.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine%3B atypical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24884609;Dbxref=PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 517_517 687.3333333333334 915.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:24884609;Dbxref=PMID:14760718,PMID:16335952,PMID:19159218,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 577_577 687.3333333333334 915.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:24884609;Dbxref=PMID:16335952,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 719_719 687.3333333333334 915.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3T052 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 720_720 687.3333333333334 915.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22171320;Dbxref=PMID:22171320 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 722_722 687.3333333333334 915.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3T052 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 747_925 687.3333333333334 915.0 retained Disulfide bond Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 621_650 687.3333333333334 915.0 not_retained Alternative sequence ID=VSP_002761;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:16271702,ECO:0000303|Ref.7;Dbxref=PMID:14702039,PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 727_765 687.3333333333334 915.0 retained Alternative sequence ID=VSP_044764;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16271702;Dbxref=PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 727_727 687.3333333333334 915.0 retained Alternative sequence ID=VSP_002762;Note=In isoform 2. A->ACPSCSRSRAPAVPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 851_866 687.3333333333334 915.0 retained Alternative sequence ID=VSP_044765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16271702;Dbxref=PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 85_85 687.3333333333334 915.0 not_retained Sequence conflict Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 86_86 687.3333333333334 915.0 not_retained Natural variant ID=VAR_013836;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12147176;Dbxref=PMID:12147176 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 669_669 687.3333333333334 915.0 not_retained Natural variant ID=VAR_027870;Note=Q->L;Dbxref=dbSNP:rs2276814 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 698_698 687.3333333333334 915.0 retained Natural variant ID=VAR_027871;Note=P->T;Dbxref=dbSNP:rs4687657 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 714_714 687.3333333333334 915.0 retained Natural variant ID=VAR_027872;Note=M->I;Dbxref=dbSNP:rs2256734 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 791_791 687.3333333333334 915.0 retained Natural variant ID=VAR_027873;Note=L->P;Dbxref=dbSNP:rs2535621 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 85_85 687.3333333333334 915.0 not_retained Sequence conflict Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 114_114 687.3333333333334 915.0 not_retained Sequence conflict Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 207_207 687.3333333333334 915.0 not_retained Sequence conflict Note=N->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 221_221 687.3333333333334 915.0 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 307_307 687.3333333333334 915.0 not_retained Sequence conflict Note=R->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 322_322 687.3333333333334 915.0 not_retained Sequence conflict Note=W->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 370_370 687.3333333333334 915.0 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 816_817 687.3333333333334 915.0 retained Sequence conflict Note=ET->QR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 905_905 687.3333333333334 915.0 retained Sequence conflict Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000346281 Q14624 15 22 927_927 687.3333333333334 915.0 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 1_28 687.3333333333334 901.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7541790;Dbxref=PMID:7541790 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 29_661 687.3333333333334 901.0 not_retained Chain ID=PRO_0000016541;Note=70 kDa inter-alpha-trypsin inhibitor heavy chain H4 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 662_688 687.3333333333334 901.0 not_retained Propeptide ID=PRO_0000016542;Note=Potentially active peptide Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 689_930 687.3333333333334 901.0 retained Chain ID=PRO_0000016543;Note=35 kDa inter-alpha-trypsin inhibitor heavy chain H4 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 29_148 687.3333333333334 901.0 not_retained Domain Note=VIT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00801 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 272_432 687.3333333333334 901.0 not_retained Domain Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 658_688 687.3333333333334 901.0 not_retained Region Note=Proline-rich (PRR) potential bioactive peptide Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 719_725 687.3333333333334 901.0 retained Region Note=O-glycosylated at three sites Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 688_689 687.3333333333334 901.0 retained Site Note=Cleavage%3B by kallikrein Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 81_81 687.3333333333334 901.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:24884609;Dbxref=PMID:16335952,PMID:19159218,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 207_207 687.3333333333334 901.0 not_retained Sequence conflict Note=N->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 274_274 687.3333333333334 901.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine%3B atypical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24884609;Dbxref=PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 517_517 687.3333333333334 901.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:24884609;Dbxref=PMID:14760718,PMID:16335952,PMID:19159218,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 577_577 687.3333333333334 901.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:24884609;Dbxref=PMID:16335952,PMID:24884609 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 719_719 687.3333333333334 901.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3T052 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 720_720 687.3333333333334 901.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22171320;Dbxref=PMID:22171320 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 722_722 687.3333333333334 901.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3T052 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 747_925 687.3333333333334 901.0 retained Disulfide bond Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 621_650 687.3333333333334 901.0 not_retained Alternative sequence ID=VSP_002761;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:16271702,ECO:0000303|Ref.7;Dbxref=PMID:14702039,PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 727_765 687.3333333333334 901.0 retained Alternative sequence ID=VSP_044764;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16271702;Dbxref=PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 727_727 687.3333333333334 901.0 retained Alternative sequence ID=VSP_002762;Note=In isoform 2. A->ACPSCSRSRAPAVPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 851_866 687.3333333333334 901.0 retained Alternative sequence ID=VSP_044765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16271702;Dbxref=PMID:16271702 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 85_85 687.3333333333334 901.0 not_retained Sequence conflict Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 86_86 687.3333333333334 901.0 not_retained Natural variant ID=VAR_013836;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12147176;Dbxref=PMID:12147176 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 669_669 687.3333333333334 901.0 not_retained Natural variant ID=VAR_027870;Note=Q->L;Dbxref=dbSNP:rs2276814 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 698_698 687.3333333333334 901.0 retained Natural variant ID=VAR_027871;Note=P->T;Dbxref=dbSNP:rs4687657 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 714_714 687.3333333333334 901.0 retained Natural variant ID=VAR_027872;Note=M->I;Dbxref=dbSNP:rs2256734 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 791_791 687.3333333333334 901.0 retained Natural variant ID=VAR_027873;Note=L->P;Dbxref=dbSNP:rs2535621 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 85_85 687.3333333333334 901.0 not_retained Sequence conflict Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 114_114 687.3333333333334 901.0 not_retained Sequence conflict Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 207_207 687.3333333333334 901.0 not_retained Sequence conflict Note=N->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 221_221 687.3333333333334 901.0 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 307_307 687.3333333333334 901.0 not_retained Sequence conflict Note=R->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 322_322 687.3333333333334 901.0 not_retained Sequence conflict Note=W->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 370_370 687.3333333333334 901.0 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 816_817 687.3333333333334 901.0 retained Sequence conflict Note=ET->QR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 905_905 687.3333333333334 901.0 retained Sequence conflict Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58862757 - ITIH4 chr3:52852299 ENST00000406595 Q14624 15 22 927_927 687.3333333333334 901.0 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 1_19 121.33333333333333 867.0 not_retained Signal peptide Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:518846,ECO:0000269|Ref.10,ECO:0000269|Ref.14;Dbxref=PMID:518846 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 20_35 121.33333333333333 867.0 not_retained Peptide ID=PRO_0000009021;Note=Fibrinopeptide A Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 36_866 121.33333333333333 867.0 not_retained Chain ID=PRO_0000009022;Note=Fibrinogen alpha chain Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 623_864 121.33333333333333 867.0 retained Domain Note=Fibrinogen C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00739 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 36_38 121.33333333333333 867.0 not_retained Region Note=Alpha-chain polymerization%2C binding distal domain of another fibrin gamma chain Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 68_631 121.33333333333333 867.0 not_retained Coiled coil Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 791_791 121.33333333333333 867.0 retained Metal binding Note=Calcium;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 793_793 121.33333333333333 867.0 retained Metal binding Note=Calcium;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 795_795 121.33333333333333 867.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 797_797 121.33333333333333 867.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 35_36 121.33333333333333 867.0 not_retained Site Note=Cleavage%3B by thrombin%3B to release fibrinopeptide A Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 100_101 121.33333333333333 867.0 not_retained Site Note=Cleavage%3B by plasmin%3B to break down fibrin clots Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 121_122 121.33333333333333 867.0 retained Site Note=Cleavage%3B by hementin%3B to prevent blood coagulation Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 123_124 121.33333333333333 867.0 retained Site Note=Cleavage%3B by plasmin%3B to break down fibrin clots Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 22_22 121.33333333333333 867.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:16807684;Dbxref=PMID:16807684 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 45_45 121.33333333333333 867.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:26091039,ECO:0007744|PubMed:24275569;Dbxref=PMID:26091039,PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 50_50 121.33333333333333 867.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 56_56 121.33333333333333 867.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 281_281 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 291_291 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 294_294 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 364_364 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 412_412 121.33333333333333 867.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:24275569;Dbxref=PMID:18088087,PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 451_451 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 501_501 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 505_505 121.33333333333333 867.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 524_524 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 560_560 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 565_565 121.33333333333333 867.0 retained Modified residue Note=4-hydroxyproline%3B by P4HA1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19696023;Dbxref=PMID:19696023 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 609_609 121.33333333333333 867.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:26091039,ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:24275569;Dbxref=PMID:26091039,PMID:18088087,PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 320_320 121.33333333333333 867.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23050552;Dbxref=PMID:23050552 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 351_351 121.33333333333333 867.0 retained Glycosylation Note=O-linked (GalNAc...) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23050552;Dbxref=PMID:23050552 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 453_453 121.33333333333333 867.0 retained Natural variant ID=VAR_002400;Note=In Caracas-2. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1675636;Dbxref=dbSNP:rs121909610,PMID:1675636 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 686_686 121.33333333333333 867.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:9689040;Dbxref=PMID:16335952,PMID:19159218,PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 47_47 121.33333333333333 867.0 not_retained Disulfide bond Note=Interchain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 55_55 121.33333333333333 867.0 not_retained Natural variant ID=VAR_072721;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B decreased fibrinogen complex assembly%3B no effect on fibrinogen complex secretion. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 64_64 121.33333333333333 867.0 not_retained Disulfide bond Note=Interchain (with C-49 in gamma chain);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 68_68 121.33333333333333 867.0 not_retained Disulfide bond Note=Interchain (with C-106 in beta chain);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 180_180 121.33333333333333 867.0 retained Disulfide bond Note=Interchain (with C-165 in gamma chain);Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19296670,ECO:0000269|PubMed:741445,ECO:0000269|PubMed:9333233,ECO:0000269|PubMed:9628725;Dbxref=PMID:19296670,PMID:741445,PMID:9333233,PMID:9628725 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 184_184 121.33333333333333 867.0 retained Natural variant ID=VAR_072723;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B impaired fibrinogen complex assembly. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 461_491 121.33333333333333 867.0 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P02672 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 799_812 121.33333333333333 867.0 retained Disulfide bond Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 322_322 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-41 in alpha-2-antiplasmin) Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 347_347 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-?) Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 385_385 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-?) Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 527_527 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 558_558 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 575_575 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 581_581 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 599_599 121.33333333333333 867.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 631_644 121.33333333333333 867.0 retained Alternative sequence ID=VSP_001531;Note=In isoform 2. DCDDVLQTHPSGTQ->GIHTSPLGKPSLSP;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:6575389;Dbxref=PMID:14702039,PMID:15489334,PMID:6575389 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 645_866 121.33333333333333 867.0 retained Alternative sequence ID=VSP_001532;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:6575389;Dbxref=PMID:14702039,PMID:15489334,PMID:6575389 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 6_6 121.33333333333333 867.0 not_retained Natural variant ID=VAR_011609;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs2070025 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 26_26 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002390;Note=In Lille-1. D->N;Dbxref=dbSNP:rs121909604 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 31_31 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002391;Note=In Rouen-1. G->V;Dbxref=dbSNP:rs121909605 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 35_35 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002393;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8461606;Dbxref=dbSNP:rs121909607,PMID:8461606 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 35_35 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002393;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8461606;Dbxref=dbSNP:rs121909607,PMID:8461606 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 37_37 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002394;Note=In Kyoto-2. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2070049;Dbxref=dbSNP:rs121909609,PMID:2070049 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 38_38 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002396;Note=In Detroit-1. R->S;Dbxref=dbSNP:rs1403508334 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 38_38 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002396;Note=In Detroit-1. R->S;Dbxref=dbSNP:rs1403508334 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 38_38 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002396;Note=In Detroit-1. R->S;Dbxref=dbSNP:rs1403508334 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 39_39 121.33333333333333 867.0 not_retained Natural variant ID=VAR_010730;Note=In Canterbury. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8675656;Dbxref=dbSNP:rs121909614,PMID:8675656 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 55_55 121.33333333333333 867.0 not_retained Natural variant ID=VAR_072721;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B decreased fibrinogen complex assembly%3B no effect on fibrinogen complex secretion. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 66_66 121.33333333333333 867.0 not_retained Natural variant ID=VAR_002398;Note=S->T Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 129_129 121.33333333333333 867.0 retained Natural variant ID=VAR_072722;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B no effect on fibrinogen complex assembly%3B no effect on fibrinogen complex secretion. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 160_160 121.33333333333333 867.0 retained Natural variant ID=VAR_002399;Note=In Lima. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1634621;Dbxref=PMID:1634621 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 184_184 121.33333333333333 867.0 retained Natural variant ID=VAR_072723;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B impaired fibrinogen complex assembly. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 331_331 121.33333333333333 867.0 retained Natural variant ID=VAR_011610;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs6050,PMID:10391209,PMID:14702039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 446_446 121.33333333333333 867.0 retained Natural variant ID=VAR_014168;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs6052,PMID:10391209 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 453_453 121.33333333333333 867.0 retained Natural variant ID=VAR_002400;Note=In Caracas-2. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1675636;Dbxref=dbSNP:rs121909610,PMID:1675636 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 456_456 121.33333333333333 867.0 retained Natural variant ID=VAR_011611;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs2070031 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 545_545 121.33333333333333 867.0 retained Natural variant ID=VAR_010731;Note=In AMYL8. E->V;Dbxref=dbSNP:rs121909612 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 573_573 121.33333333333333 867.0 retained Natural variant ID=VAR_010732;Note=In AMYL8. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8097946;Dbxref=dbSNP:rs78506343,PMID:8097946 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 573_573 121.33333333333333 867.0 retained Natural variant ID=VAR_010732;Note=In AMYL8. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8097946;Dbxref=dbSNP:rs78506343,PMID:8097946 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 177_177 121.33333333333333 867.0 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 215_216 121.33333333333333 867.0 retained Sequence conflict Note=SR->RS;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 299_299 121.33333333333333 867.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 304_304 121.33333333333333 867.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 317_318 121.33333333333333 867.0 retained Sequence conflict Note=GT->SG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 27_31 121.33333333333333 867.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1BBR Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 57_60 121.33333333333333 867.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 63_65 121.33333333333333 867.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 67_92 121.33333333333333 867.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 94_111 121.33333333333333 867.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 116_129 121.33333333333333 867.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 133_135 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZA Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 139_141 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 142_178 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 179_183 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 184_186 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1RE3 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 195_209 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 226_228 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 337_343 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4F27 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 582_587 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5CFA Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 673_681 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 689_694 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 711_718 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 723_729 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 735_744 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 747_751 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 753_762 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 765_768 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 771_773 121.33333333333333 867.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 775_778 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 793_797 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 799_803 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 810_812 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 814_816 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 823_826 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 829_831 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 840_843 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 844_847 121.33333333333333 867.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000302053 P02671 2 6 854_861 121.33333333333333 867.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 1_19 121.33333333333333 645.0 not_retained Signal peptide Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:518846,ECO:0000269|Ref.10,ECO:0000269|Ref.14;Dbxref=PMID:518846 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 20_35 121.33333333333333 645.0 not_retained Peptide ID=PRO_0000009021;Note=Fibrinopeptide A Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 36_866 121.33333333333333 645.0 not_retained Chain ID=PRO_0000009022;Note=Fibrinogen alpha chain Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 623_864 121.33333333333333 645.0 retained Domain Note=Fibrinogen C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00739 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 36_38 121.33333333333333 645.0 not_retained Region Note=Alpha-chain polymerization%2C binding distal domain of another fibrin gamma chain Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 68_631 121.33333333333333 645.0 not_retained Coiled coil Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 791_791 121.33333333333333 645.0 retained Metal binding Note=Calcium;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 793_793 121.33333333333333 645.0 retained Metal binding Note=Calcium;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 795_795 121.33333333333333 645.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 797_797 121.33333333333333 645.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 35_36 121.33333333333333 645.0 not_retained Site Note=Cleavage%3B by thrombin%3B to release fibrinopeptide A Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 100_101 121.33333333333333 645.0 not_retained Site Note=Cleavage%3B by plasmin%3B to break down fibrin clots Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 121_122 121.33333333333333 645.0 retained Site Note=Cleavage%3B by hementin%3B to prevent blood coagulation Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 123_124 121.33333333333333 645.0 retained Site Note=Cleavage%3B by plasmin%3B to break down fibrin clots Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 22_22 121.33333333333333 645.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:16807684;Dbxref=PMID:16807684 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 45_45 121.33333333333333 645.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:26091039,ECO:0007744|PubMed:24275569;Dbxref=PMID:26091039,PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 50_50 121.33333333333333 645.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 56_56 121.33333333333333 645.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 281_281 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 291_291 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 294_294 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 364_364 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 412_412 121.33333333333333 645.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:24275569;Dbxref=PMID:18088087,PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 451_451 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 501_501 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 505_505 121.33333333333333 645.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 524_524 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 560_560 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 565_565 121.33333333333333 645.0 retained Modified residue Note=4-hydroxyproline%3B by P4HA1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19696023;Dbxref=PMID:19696023 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 609_609 121.33333333333333 645.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:26091039,ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:24275569;Dbxref=PMID:26091039,PMID:18088087,PMID:24275569 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 320_320 121.33333333333333 645.0 retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23050552;Dbxref=PMID:23050552 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 351_351 121.33333333333333 645.0 retained Glycosylation Note=O-linked (GalNAc...) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23050552;Dbxref=PMID:23050552 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 453_453 121.33333333333333 645.0 retained Natural variant ID=VAR_002400;Note=In Caracas-2. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1675636;Dbxref=dbSNP:rs121909610,PMID:1675636 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 686_686 121.33333333333333 645.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:9689040;Dbxref=PMID:16335952,PMID:19159218,PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 47_47 121.33333333333333 645.0 not_retained Disulfide bond Note=Interchain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 55_55 121.33333333333333 645.0 not_retained Natural variant ID=VAR_072721;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B decreased fibrinogen complex assembly%3B no effect on fibrinogen complex secretion. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 64_64 121.33333333333333 645.0 not_retained Disulfide bond Note=Interchain (with C-49 in gamma chain);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 68_68 121.33333333333333 645.0 not_retained Disulfide bond Note=Interchain (with C-106 in beta chain);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19296670;Dbxref=PMID:19296670 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 180_180 121.33333333333333 645.0 retained Disulfide bond Note=Interchain (with C-165 in gamma chain);Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19296670,ECO:0000269|PubMed:741445,ECO:0000269|PubMed:9333233,ECO:0000269|PubMed:9628725;Dbxref=PMID:19296670,PMID:741445,PMID:9333233,PMID:9628725 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 184_184 121.33333333333333 645.0 retained Natural variant ID=VAR_072723;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B impaired fibrinogen complex assembly. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 461_491 121.33333333333333 645.0 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P02672 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 799_812 121.33333333333333 645.0 retained Disulfide bond Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9689040,ECO:0007744|PDB:1FZD;Dbxref=PMID:9689040 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 322_322 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-41 in alpha-2-antiplasmin) Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 347_347 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-?) Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 385_385 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-?) Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 527_527 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 558_558 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 575_575 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 581_581 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 599_599 121.33333333333333 645.0 retained Cross-link Note=Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?);Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 631_644 121.33333333333333 645.0 retained Alternative sequence ID=VSP_001531;Note=In isoform 2. DCDDVLQTHPSGTQ->GIHTSPLGKPSLSP;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:6575389;Dbxref=PMID:14702039,PMID:15489334,PMID:6575389 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 645_866 121.33333333333333 645.0 retained Alternative sequence ID=VSP_001532;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:6575389;Dbxref=PMID:14702039,PMID:15489334,PMID:6575389 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 6_6 121.33333333333333 645.0 not_retained Natural variant ID=VAR_011609;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs2070025 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 26_26 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002390;Note=In Lille-1. D->N;Dbxref=dbSNP:rs121909604 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 31_31 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002391;Note=In Rouen-1. G->V;Dbxref=dbSNP:rs121909605 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 35_35 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002393;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8461606;Dbxref=dbSNP:rs121909607,PMID:8461606 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 35_35 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002393;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8461606;Dbxref=dbSNP:rs121909607,PMID:8461606 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 37_37 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002394;Note=In Kyoto-2. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2070049;Dbxref=dbSNP:rs121909609,PMID:2070049 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 38_38 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002396;Note=In Detroit-1. R->S;Dbxref=dbSNP:rs1403508334 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 38_38 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002396;Note=In Detroit-1. R->S;Dbxref=dbSNP:rs1403508334 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 38_38 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002396;Note=In Detroit-1. R->S;Dbxref=dbSNP:rs1403508334 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 39_39 121.33333333333333 645.0 not_retained Natural variant ID=VAR_010730;Note=In Canterbury. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8675656;Dbxref=dbSNP:rs121909614,PMID:8675656 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 55_55 121.33333333333333 645.0 not_retained Natural variant ID=VAR_072721;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B decreased fibrinogen complex assembly%3B no effect on fibrinogen complex secretion. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 66_66 121.33333333333333 645.0 not_retained Natural variant ID=VAR_002398;Note=S->T Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 129_129 121.33333333333333 645.0 retained Natural variant ID=VAR_072722;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B no effect on fibrinogen complex assembly%3B no effect on fibrinogen complex secretion. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 160_160 121.33333333333333 645.0 retained Natural variant ID=VAR_002399;Note=In Lima. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1634621;Dbxref=PMID:1634621 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 184_184 121.33333333333333 645.0 retained Natural variant ID=VAR_072723;Note=In CAFBN%3B hypofibrinogenemia%3B heterozygous%3B impaired fibrinogen complex assembly. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25427968;Dbxref=PMID:25427968 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 331_331 121.33333333333333 645.0 retained Natural variant ID=VAR_011610;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs6050,PMID:10391209,PMID:14702039 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 446_446 121.33333333333333 645.0 retained Natural variant ID=VAR_014168;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs6052,PMID:10391209 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 453_453 121.33333333333333 645.0 retained Natural variant ID=VAR_002400;Note=In Caracas-2. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1675636;Dbxref=dbSNP:rs121909610,PMID:1675636 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 456_456 121.33333333333333 645.0 retained Natural variant ID=VAR_011611;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs2070031 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 545_545 121.33333333333333 645.0 retained Natural variant ID=VAR_010731;Note=In AMYL8. E->V;Dbxref=dbSNP:rs121909612 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 573_573 121.33333333333333 645.0 retained Natural variant ID=VAR_010732;Note=In AMYL8. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8097946;Dbxref=dbSNP:rs78506343,PMID:8097946 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 573_573 121.33333333333333 645.0 retained Natural variant ID=VAR_010732;Note=In AMYL8. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8097946;Dbxref=dbSNP:rs78506343,PMID:8097946 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 177_177 121.33333333333333 645.0 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 215_216 121.33333333333333 645.0 retained Sequence conflict Note=SR->RS;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 299_299 121.33333333333333 645.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 304_304 121.33333333333333 645.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 317_318 121.33333333333333 645.0 retained Sequence conflict Note=GT->SG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 27_31 121.33333333333333 645.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1BBR Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 57_60 121.33333333333333 645.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 63_65 121.33333333333333 645.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 67_92 121.33333333333333 645.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 94_111 121.33333333333333 645.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 116_129 121.33333333333333 645.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 133_135 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZA Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 139_141 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 142_178 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 179_183 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 184_186 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1RE3 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 195_209 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZC Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 226_228 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3GHG Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 337_343 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4F27 Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 582_587 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5CFA Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 673_681 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 689_694 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 711_718 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 723_729 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 735_744 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 747_751 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 753_762 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 765_768 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 771_773 121.33333333333333 645.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 775_778 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 793_797 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 799_803 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 810_812 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 814_816 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 823_826 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 829_831 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 840_843 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 844_847 121.33333333333333 645.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A1BG chr19:58864658 - FGA chr4:155508809 ENST00000403106 P02671 2 5 854_861 121.33333333333333 645.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1FZD Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 1_1 35.0 542.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000269,ECO:0000269,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0000269|Ref.7,ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378,ECO:0007744|PubMed:25944712;Dbxref=PMID:19413330,PMID:22223895,PMID:22814378,PMID:25944712 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 2_541 35.0 542.0 not_retained Chain ID=PRO_0000128346;Note=T-complex protein 1 subunit epsilon Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 2_2 35.0 542.0 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0000269|Ref.7,ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378,ECO:0007744|PubMed:25944712;Dbxref=PMID:19413330,PMID:22223895,PMID:22814378,PMID:25944712 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 26_26 35.0 542.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 346_346 35.0 542.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 539_539 35.0 542.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 20_20 35.0 542.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 210_210 35.0 542.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 214_214 35.0 542.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 265_265 35.0 542.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 275_275 35.0 542.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 279_279 35.0 542.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 392_392 35.0 542.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 1_38 35.0 542.0 not_retained Alternative sequence ID=VSP_054005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 56_110 35.0 542.0 retained Alternative sequence ID=VSP_054006;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 146_146 35.0 542.0 retained Natural variant ID=VAR_052267;Note=E->V;Dbxref=dbSNP:rs11557652 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 147_147 35.0 542.0 retained Natural variant ID=VAR_030658;Note=In HSNSP. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16399879;Dbxref=dbSNP:rs118203986,PMID:16399879 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 55_55 35.0 542.0 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 512_512 35.0 542.0 retained Sequence conflict Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 32_49 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 74_80 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 86_102 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 107_125 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 130_151 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 158_161 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 164_169 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 183_195 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 200_202 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 208_213 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 219_221 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 226_230 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 241_246 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 248_251 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 271_293 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 298_301 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 308_315 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 316_318 35.0 542.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 328_330 35.0 542.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 331_336 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 350_352 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 356_364 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 367_374 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 383_387 35.0 542.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 391_393 35.0 542.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 394_414 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 421_423 35.0 542.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 424_438 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 444_455 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 457_464 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 465_467 35.0 542.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 470_484 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 503_505 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9220308 - CCT5 chr5:10250033 ENST00000280326 P48643 -1 11 510_528 35.0 542.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5UYX Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1_25 1098.0 1483.0 not_retained Signal peptide . Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 26_1482 1098.0 1483.0 not_retained Chain ID=PRO_0000000063;Note=Pregnancy zone protein Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 685_735 1098.0 1483.0 not_retained Region Note=Bait region Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 54_54 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 69_69 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 246_246 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 392_392 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 406_406 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 753_753 1098.0 1483.0 not_retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 875_875 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 932_932 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 997_997 1098.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1430_1430 1098.0 1483.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 978_981 1098.0 1483.0 not_retained Cross-link Note=Isoglutamyl cysteine thioester (Cys-Gln) Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1_131 1098.0 1483.0 not_retained Alternative sequence ID=VSP_030862;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 132_142 1098.0 1483.0 not_retained Alternative sequence ID=VSP_030863;Note=In isoform 2. TDKPMYKPGQT->MSESYRRTTFP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 830_912 1098.0 1483.0 not_retained Alternative sequence ID=VSP_030864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 379_379 1098.0 1483.0 not_retained Natural variant ID=VAR_034429;Note=L->V;Dbxref=dbSNP:rs12230214 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 691_691 1098.0 1483.0 not_retained Natural variant ID=VAR_021845;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1692292;Dbxref=dbSNP:rs3213832,PMID:1692292 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 813_813 1098.0 1483.0 not_retained Natural variant ID=VAR_020005;Note=V->A;Dbxref=dbSNP:rs2277413 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 857_857 1098.0 1483.0 not_retained Natural variant ID=VAR_060733;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1989698;Dbxref=dbSNP:rs3213831,PMID:1989698 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1003_1003 1098.0 1483.0 not_retained Natural variant ID=VAR_060982;Note=T->M;Dbxref=dbSNP:rs57006764 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1128_1128 1098.0 1483.0 retained Natural variant ID=VAR_036235;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs200477595,PMID:16959974 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1205_1205 1098.0 1483.0 retained Natural variant ID=VAR_060734;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2377741,PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 1443_1443 1098.0 1483.0 retained Natural variant ID=VAR_024358;Note=I->N;Dbxref=dbSNP:rs10842971 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000261336 P20742 25 36 753_753 1098.0 1483.0 not_retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1_25 884.0 1269.0 not_retained Signal peptide . Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 26_1482 884.0 1269.0 not_retained Chain ID=PRO_0000000063;Note=Pregnancy zone protein Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 685_735 884.0 1269.0 not_retained Region Note=Bait region Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 54_54 884.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 69_69 884.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 246_246 884.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 392_392 884.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 406_406 884.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 753_753 884.0 1269.0 not_retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 875_875 884.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 932_932 884.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 997_997 884.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1430_1430 884.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 978_981 884.0 1269.0 retained Cross-link Note=Isoglutamyl cysteine thioester (Cys-Gln) Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1_131 884.0 1269.0 not_retained Alternative sequence ID=VSP_030862;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 132_142 884.0 1269.0 not_retained Alternative sequence ID=VSP_030863;Note=In isoform 2. TDKPMYKPGQT->MSESYRRTTFP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 830_912 884.0 1269.0 not_retained Alternative sequence ID=VSP_030864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 379_379 884.0 1269.0 not_retained Natural variant ID=VAR_034429;Note=L->V;Dbxref=dbSNP:rs12230214 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 691_691 884.0 1269.0 not_retained Natural variant ID=VAR_021845;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1692292;Dbxref=dbSNP:rs3213832,PMID:1692292 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 813_813 884.0 1269.0 not_retained Natural variant ID=VAR_020005;Note=V->A;Dbxref=dbSNP:rs2277413 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 857_857 884.0 1269.0 not_retained Natural variant ID=VAR_060733;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1989698;Dbxref=dbSNP:rs3213831,PMID:1989698 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1003_1003 884.0 1269.0 retained Natural variant ID=VAR_060982;Note=T->M;Dbxref=dbSNP:rs57006764 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1128_1128 884.0 1269.0 retained Natural variant ID=VAR_036235;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs200477595,PMID:16959974 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1205_1205 884.0 1269.0 retained Natural variant ID=VAR_060734;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2377741,PMID:15489334 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 1443_1443 884.0 1269.0 retained Natural variant ID=VAR_024358;Note=I->N;Dbxref=dbSNP:rs10842971 Tgene A2M chr12:9230297 - PZP chr12:9310437 ENST00000381997 P20742 20 31 753_753 884.0 1269.0 not_retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000440909 P01009 3 5 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000448921 P01009 5 7 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000437397 P01009 4 6 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000355814 P01009 3 5 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393087 P01009 3 5 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000393088 P01009 5 7 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000404814 P01009 4 6 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 1_24 355.0 419.0 not_retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 25_418 355.0 419.0 not_retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 375_418 355.0 419.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 368_392 355.0 419.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 352_353 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 354_355 355.0 419.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 382_383 355.0 419.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 38_38 355.0 419.0 not_retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 256_256 355.0 419.0 not_retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 383_383 355.0 419.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 70_70 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 107_107 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 271_271 355.0 419.0 not_retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 307_418 355.0 419.0 not_retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 356_418 355.0 419.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 4_4 355.0 419.0 not_retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 37_37 355.0 419.0 not_retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 58_58 355.0 419.0 not_retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 63_63 355.0 419.0 not_retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 65_65 355.0 419.0 not_retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 69_69 355.0 419.0 not_retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 75_75 355.0 419.0 not_retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 77_77 355.0 419.0 not_retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 84_84 355.0 419.0 not_retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 91_91 355.0 419.0 not_retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 92_92 355.0 419.0 not_retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 109_109 355.0 419.0 not_retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 112_112 355.0 419.0 not_retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 116_116 355.0 419.0 not_retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 125_125 355.0 419.0 not_retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 139_139 355.0 419.0 not_retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 172_172 355.0 419.0 not_retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 180_180 355.0 419.0 not_retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 190_198 355.0 419.0 not_retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 228_228 355.0 419.0 not_retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 237_237 355.0 419.0 not_retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 247_247 355.0 419.0 not_retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 288_288 355.0 419.0 not_retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 305_305 355.0 419.0 not_retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 354_354 355.0 419.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 360_360 355.0 419.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 365_365 355.0 419.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 366_366 355.0 419.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 386_386 355.0 419.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 387_387 355.0 419.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 393_393 355.0 419.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 400_400 355.0 419.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 415_415 355.0 419.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 382_382 355.0 419.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 12_12 355.0 419.0 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 23_23 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 26_26 355.0 419.0 not_retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 39_39 355.0 419.0 not_retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 61_61 355.0 419.0 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 96_96 355.0 419.0 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 139_140 355.0 419.0 not_retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 174_174 355.0 419.0 not_retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 229_229 355.0 419.0 not_retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 273_273 355.0 419.0 not_retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 280_280 355.0 419.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 326_326 355.0 419.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 410_410 355.0 419.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 414_414 355.0 419.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 48_50 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 51_68 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 70_72 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 74_76 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 78_89 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 94_103 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 108_110 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 113_127 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 135_145 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 146_148 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 152_162 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 164_169 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 171_173 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 174_188 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 189_191 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 206_220 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 224_226 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 228_235 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 238_256 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 257_260 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 261_279 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 280_282 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 284_290 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 293_301 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 306_313 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 315_322 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 324_329 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 334_336 355.0 419.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 337_339 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 343_345 355.0 419.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 347_349 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 351_364 355.0 419.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 366_381 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 387_389 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 394_400 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 401_403 355.0 419.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000449399 P01009 4 6 406_414 355.0 419.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 1_24 0 360.0 retained Signal peptide Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1906855;Dbxref=PMID:1906855 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 25_418 0 360.0 retained Chain ID=PRO_0000032377;Note=Alpha-1-antitrypsin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6093867;Dbxref=PMID:6093867 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 375_418 0 360.0 retained Peptide ID=PRO_0000364030;Note=Short peptide from AAT Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 368_392 0 360.0 retained Region Note=RCL Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 352_353 0 360.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus aureolysin/Aur;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 354_355 0 360.0 retained Site Note=(Microbial infection) Cleavage%3B by Staphylococcus aureus serine and cysteine proteinases;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3533918;Dbxref=PMID:3533918 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 382_383 0 360.0 retained Site Note=Reactive bond Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 38_38 0 360.0 retained Modified residue Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 256_256 0 360.0 retained Modified residue Note=S-cysteinyl cysteine Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 383_383 0 360.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 70_70 0 360.0 retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16263699,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16263699,PMID:16335952,PMID:16622833,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 107_107 0 360.0 retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169;Dbxref=PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 271_271 0 360.0 retained Glycosylation Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:14760718,ECO:0000269|PubMed:15084671,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:16622833,ECO:0000269|PubMed:19139490,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19838169,ECO:0000269|PubMed:22171320;Dbxref=PMID:12754519,PMID:14760718,PMID:15084671,PMID:16335952,PMID:16622833,PMID:19139490,PMID:19159218,PMID:19838169,PMID:22171320 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 307_418 0 360.0 retained Alternative sequence ID=VSP_028890;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 356_418 0 360.0 retained Alternative sequence ID=VSP_028889;Note=In isoform 2. AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK->VRSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.10 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 4_4 0 360.0 retained Natural variant ID=VAR_006978;Note=In Z-Wrexham. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 26_26 0 360.0 retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 37_37 0 360.0 retained Natural variant ID=VAR_051938;Note=T->A;Dbxref=dbSNP:rs11558262 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 58_58 0 360.0 retained Natural variant ID=VAR_006980;Note=In M5-Karlsruhe. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs149319176,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 63_63 0 360.0 retained Natural variant ID=VAR_006981;Note=In I. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2606478;Dbxref=dbSNP:rs28931570,PMID:2606478 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 65_65 0 360.0 retained Natural variant ID=VAR_006982;Note=In M-Procida. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3262617;Dbxref=dbSNP:rs28931569,PMID:3262617 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 69_69 0 360.0 retained Natural variant ID=VAR_006983;Note=In M6-Bonn. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs199687431,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 75_75 0 360.0 retained Natural variant ID=VAR_006984;Note=In M-Malton%2C M-Nichinan and M-Palermo%3B associated with very low serum levels of AAT%3B homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2309708,ECO:0000269|PubMed:2606478,ECO:0000269|PubMed:2786335,ECO:0000269|PubMed:7977369;Dbxref=PMID:2309708,PMID:2606478,PMID:2786335,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 77_77 0 360.0 retained Natural variant ID=VAR_006985;Note=In S-Iiyama. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1905728;Dbxref=dbSNP:rs55819880,PMID:1905728 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 84_84 0 360.0 retained Natural variant ID=VAR_006986;Note=In M6-Passau. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs111850950,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 91_91 0 360.0 retained Natural variant ID=VAR_006987;Note=In M-Mineral springs%3B causes reduced AAT secretion. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1967187;Dbxref=dbSNP:rs28931568,PMID:1967187 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 92_92 0 360.0 retained Natural variant ID=VAR_006988;Note=In QO-Lisbon%3B deficient AAT with very low serum levels. T->I;Dbxref=dbSNP:rs1490133295 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 109_109 0 360.0 retained Natural variant ID=VAR_011620;Note=In Z-Bristol%3B deficient AA%3B disrupts the N-glycosylation site N-107. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9459000;Dbxref=dbSNP:rs199422213,PMID:9459000 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 112_112 0 360.0 retained Natural variant ID=VAR_006989;Note=In M5-Berlin. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs886044322,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 116_116 0 360.0 retained Natural variant ID=VAR_006990;Note=In QO-Ludwigshafen. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2254451;Dbxref=dbSNP:rs28931572,PMID:2254451 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 125_125 0 360.0 retained Natural variant ID=VAR_006991;Note=In M2%3B associated with D-400. R->H;Dbxref=dbSNP:rs709932 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 139_139 0 360.0 retained Natural variant ID=VAR_006992;Note=In QO-Newport. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2227940;Dbxref=dbSNP:rs11558261,PMID:2227940 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 172_172 0 360.0 retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 172_172 0 360.0 retained Natural variant ID=VAR_006994;Note=In M2-Obernburg. G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7977369,ECO:0000269|Ref.8;Dbxref=dbSNP:rs112030253,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 180_180 0 360.0 retained Natural variant ID=VAR_006995;Note=In L-Frankfurt. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs864622051,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 190_198 0 360.0 retained Natural variant ID=VAR_036746;Note=In Aberrant form. QGKIVDLVK->GFQNAILVR Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 228_228 0 360.0 retained Natural variant ID=VAR_006996;Note=In X. E->K;Dbxref=dbSNP:rs199422208 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 237_237 0 360.0 retained Natural variant ID=VAR_006997;Note=In M1A and Z%3B associated with K-366 in Z. V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.12,ECO:0000269|Ref.8;Dbxref=dbSNP:rs6647,PMID:17650587,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 247_247 0 360.0 retained Natural variant ID=VAR_006998;Note=In F. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2035534;Dbxref=dbSNP:rs28929470,PMID:2035534 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 280_280 0 360.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 288_288 0 360.0 retained Natural variant ID=VAR_007000;Note=In S and T. E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23826168,ECO:0000269|Ref.17;Dbxref=dbSNP:rs17580,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 305_305 0 360.0 retained Natural variant ID=VAR_009216;Note=In Basque. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612848;Dbxref=PMID:10612848 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 354_354 0 360.0 retained Natural variant ID=VAR_007001;Note=In S-Munich. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs201788603,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 360_360 0 360.0 retained Natural variant ID=VAR_007002;Note=In W-Bethesda. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2390072;Dbxref=dbSNP:rs1802959,PMID:2390072 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 365_365 0 360.0 retained Natural variant ID=VAR_007003;Note=In P-St.Albans/P-Donauwoerth. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs143370956,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 366_366 0 360.0 retained Natural variant ID=VAR_007004;Note=In Z/Z-Augsburg/Z-Tun%3B associated with A-237 in Z. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2339709,ECO:0000269|PubMed:23826168,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28929474,PMID:2339709,PMID:23826168 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 382_382 0 360.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 386_386 0 360.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 386_386 0 360.0 retained Natural variant ID=VAR_007007;Note=In L-Offenbach. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7977369;Dbxref=dbSNP:rs12233,PMID:7977369 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 387_387 0 360.0 retained Natural variant ID=VAR_007008;Note=In Christchurch. E->K;Dbxref=dbSNP:rs121912712 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 393_393 0 360.0 retained Natural variant ID=VAR_007009;Note=In M-Heerlen. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2784123;Dbxref=dbSNP:rs199422209,PMID:2784123 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 400_400 0 360.0 retained Natural variant ID=VAR_007010;Note=In M2 and M3%3B associated with H-125 in M2. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17650587,ECO:0000269|PubMed:2394452;Dbxref=dbSNP:rs1303,PMID:17650587,PMID:2394452 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 415_415 0 360.0 retained Natural variant ID=VAR_007011;Note=In Y-Barcelona%3B associated with V-280. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10651487;Dbxref=PMID:10651487 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 382_382 0 360.0 retained Mutagenesis Note=Oxidation-resistant inhibitor of therapeutic importance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6387509;Dbxref=PMID:6387509 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 12_12 0 360.0 retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 23_23 0 360.0 retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 26_26 0 360.0 retained Sequence conflict Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 39_39 0 360.0 retained Sequence conflict Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 61_61 0 360.0 retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 96_96 0 360.0 retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 139_140 0 360.0 retained Sequence conflict Note=GN->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 174_174 0 360.0 retained Sequence conflict Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 229_229 0 360.0 retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 273_273 0 360.0 retained Sequence conflict Note=T->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 280_280 0 360.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 326_326 0 360.0 retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 410_410 0 360.0 retained Sequence conflict Note=G->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 414_414 0 360.0 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 48_50 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1HP7 Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 51_68 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 70_72 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6I7U Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 74_76 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 78_89 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 94_103 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 108_110 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 113_127 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 135_145 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 146_148 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 152_162 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 164_169 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 171_173 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 174_188 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 189_191 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 206_220 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 224_226 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 228_235 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 238_256 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 257_260 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 261_279 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 280_282 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1ATU Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 284_290 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 293_301 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 306_313 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 315_322 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 324_329 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 334_336 0 360.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 337_339 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1QMB Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 343_345 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 347_349 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 351_364 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 366_381 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 387_389 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 394_400 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 401_403 0 360.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9232690 - SERPINA1 chr14:94844977 ENST00000402629 P01009 0 4 406_414 0 360.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NDD Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1_25 912.0 1483.0 not_retained Signal peptide . Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 26_1482 912.0 1483.0 not_retained Chain ID=PRO_0000000063;Note=Pregnancy zone protein Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 685_735 912.0 1483.0 not_retained Region Note=Bait region Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 54_54 912.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 69_69 912.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 246_246 912.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 392_392 912.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 406_406 912.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 753_753 912.0 1483.0 not_retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 875_875 912.0 1483.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 932_932 912.0 1483.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 997_997 912.0 1483.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1430_1430 912.0 1483.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 978_981 912.0 1483.0 retained Cross-link Note=Isoglutamyl cysteine thioester (Cys-Gln) Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1_131 912.0 1483.0 not_retained Alternative sequence ID=VSP_030862;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 132_142 912.0 1483.0 not_retained Alternative sequence ID=VSP_030863;Note=In isoform 2. TDKPMYKPGQT->MSESYRRTTFP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 830_912 912.0 1483.0 not_retained Alternative sequence ID=VSP_030864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 379_379 912.0 1483.0 not_retained Natural variant ID=VAR_034429;Note=L->V;Dbxref=dbSNP:rs12230214 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 691_691 912.0 1483.0 not_retained Natural variant ID=VAR_021845;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1692292;Dbxref=dbSNP:rs3213832,PMID:1692292 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 813_813 912.0 1483.0 not_retained Natural variant ID=VAR_020005;Note=V->A;Dbxref=dbSNP:rs2277413 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 857_857 912.0 1483.0 not_retained Natural variant ID=VAR_060733;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1989698;Dbxref=dbSNP:rs3213831,PMID:1989698 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1003_1003 912.0 1483.0 retained Natural variant ID=VAR_060982;Note=T->M;Dbxref=dbSNP:rs57006764 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1128_1128 912.0 1483.0 retained Natural variant ID=VAR_036235;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs200477595,PMID:16959974 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1205_1205 912.0 1483.0 retained Natural variant ID=VAR_060734;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2377741,PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 1443_1443 912.0 1483.0 retained Natural variant ID=VAR_024358;Note=I->N;Dbxref=dbSNP:rs10842971 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000261336 P20742 20 36 753_753 912.0 1483.0 not_retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1_25 698.0 1269.0 not_retained Signal peptide . Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 26_1482 698.0 1269.0 not_retained Chain ID=PRO_0000000063;Note=Pregnancy zone protein Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 685_735 698.0 1269.0 not_retained Region Note=Bait region Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 54_54 698.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 69_69 698.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 246_246 698.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 392_392 698.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 406_406 698.0 1269.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 753_753 698.0 1269.0 retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 875_875 698.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 932_932 698.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 997_997 698.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1430_1430 698.0 1269.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 978_981 698.0 1269.0 retained Cross-link Note=Isoglutamyl cysteine thioester (Cys-Gln) Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1_131 698.0 1269.0 not_retained Alternative sequence ID=VSP_030862;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 132_142 698.0 1269.0 not_retained Alternative sequence ID=VSP_030863;Note=In isoform 2. TDKPMYKPGQT->MSESYRRTTFP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 830_912 698.0 1269.0 retained Alternative sequence ID=VSP_030864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 379_379 698.0 1269.0 not_retained Natural variant ID=VAR_034429;Note=L->V;Dbxref=dbSNP:rs12230214 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 691_691 698.0 1269.0 not_retained Natural variant ID=VAR_021845;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1692292;Dbxref=dbSNP:rs3213832,PMID:1692292 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 813_813 698.0 1269.0 retained Natural variant ID=VAR_020005;Note=V->A;Dbxref=dbSNP:rs2277413 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 857_857 698.0 1269.0 retained Natural variant ID=VAR_060733;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1989698;Dbxref=dbSNP:rs3213831,PMID:1989698 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1003_1003 698.0 1269.0 retained Natural variant ID=VAR_060982;Note=T->M;Dbxref=dbSNP:rs57006764 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1128_1128 698.0 1269.0 retained Natural variant ID=VAR_036235;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs200477595,PMID:16959974 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1205_1205 698.0 1269.0 retained Natural variant ID=VAR_060734;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2377741,PMID:15489334 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 1443_1443 698.0 1269.0 retained Natural variant ID=VAR_024358;Note=I->N;Dbxref=dbSNP:rs10842971 Tgene A2M chr12:9243797 - PZP chr12:9315244 ENST00000381997 P20742 15 31 753_753 698.0 1269.0 retained Sequence conflict Note=N->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 1_1 365.3333333333333 531.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 2_530 365.3333333333333 531.0 not_retained Chain ID=PRO_0000081814;Note=RNA-binding protein 39 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 153_230 365.3333333333333 531.0 not_retained Domain Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 250_328 365.3333333333333 531.0 not_retained Domain Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 445_508 365.3333333333333 531.0 retained Domain Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 291_406 365.3333333333333 531.0 not_retained Region Note=Interaction with JUN;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 291_355 365.3333333333333 531.0 not_retained Region Note=Activating domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 355_406 365.3333333333333 531.0 not_retained Region Note=Interaction with ESR1 and ESR2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 406_530 365.3333333333333 531.0 retained Region Note=Interaction with NCOA6;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 41_90 365.3333333333333 531.0 not_retained Compositional bias Note=Arg/Ser-rich (RS domain) Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 409_416 365.3333333333333 531.0 retained Compositional bias Note=Poly-Ala Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 2_2 365.3333333333333 531.0 not_retained Natural variant ID=VAR_015228;Note=A->V;Dbxref=dbSNP:rs1803701 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 95_95 365.3333333333333 531.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 97_97 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 100_100 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 117_117 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 121_121 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 136_136 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:18691976,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 146_146 365.3333333333333 531.0 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 334_334 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 337_337 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 341_341 365.3333333333333 531.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 111_111 365.3333333333333 531.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 119_119 365.3333333333333 531.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 244_244 365.3333333333333 531.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 100_121 365.3333333333333 531.0 not_retained Alternative sequence ID=VSP_043375;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 392_397 365.3333333333333 531.0 retained Alternative sequence ID=VSP_005820;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8227358;Dbxref=PMID:8227358 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 2_2 365.3333333333333 531.0 not_retained Natural variant ID=VAR_015228;Note=A->V;Dbxref=dbSNP:rs1803701 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 265_265 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083212;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 268_268 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 268_268 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 268_268 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 268_268 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 271_271 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083218;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 271_271 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083218;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 272_272 365.3333333333333 531.0 not_retained Natural variant ID=VAR_083219;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 147_151 365.3333333333333 531.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 154_160 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 166_173 365.3333333333333 531.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 174_176 365.3333333333333 531.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 179_184 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 189_192 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2MHN Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 195_203 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 206_211 365.3333333333333 531.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 212_215 365.3333333333333 531.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 224_227 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 235_238 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JRS Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 250_256 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 263_270 365.3333333333333 531.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 271_273 365.3333333333333 531.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 276_283 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 285_287 365.3333333333333 531.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 288_300 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 301_311 365.3333333333333 531.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 314_316 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6PAI Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 322_325 365.3333333333333 531.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 424_431 365.3333333333333 531.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 434_436 365.3333333333333 531.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 442_454 365.3333333333333 531.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 455_458 365.3333333333333 531.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 461_465 365.3333333333333 531.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 474_477 365.3333333333333 531.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 481_491 365.3333333333333 531.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 502_506 365.3333333333333 531.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 508_514 365.3333333333333 531.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000253363 Q14498 10 17 516_519 365.3333333333333 531.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 1_1 365.3333333333333 525.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 2_530 365.3333333333333 525.0 not_retained Chain ID=PRO_0000081814;Note=RNA-binding protein 39 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 153_230 365.3333333333333 525.0 not_retained Domain Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 250_328 365.3333333333333 525.0 not_retained Domain Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 445_508 365.3333333333333 525.0 retained Domain Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 291_406 365.3333333333333 525.0 not_retained Region Note=Interaction with JUN;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 291_355 365.3333333333333 525.0 not_retained Region Note=Activating domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 355_406 365.3333333333333 525.0 not_retained Region Note=Interaction with ESR1 and ESR2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 406_530 365.3333333333333 525.0 retained Region Note=Interaction with NCOA6;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 41_90 365.3333333333333 525.0 not_retained Compositional bias Note=Arg/Ser-rich (RS domain) Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 409_416 365.3333333333333 525.0 retained Compositional bias Note=Poly-Ala Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 2_2 365.3333333333333 525.0 not_retained Natural variant ID=VAR_015228;Note=A->V;Dbxref=dbSNP:rs1803701 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 95_95 365.3333333333333 525.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 97_97 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 100_100 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 117_117 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 121_121 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 136_136 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:18691976,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 146_146 365.3333333333333 525.0 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 334_334 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 337_337 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 341_341 365.3333333333333 525.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 111_111 365.3333333333333 525.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 119_119 365.3333333333333 525.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 244_244 365.3333333333333 525.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 100_121 365.3333333333333 525.0 not_retained Alternative sequence ID=VSP_043375;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 392_397 365.3333333333333 525.0 retained Alternative sequence ID=VSP_005820;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8227358;Dbxref=PMID:8227358 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 2_2 365.3333333333333 525.0 not_retained Natural variant ID=VAR_015228;Note=A->V;Dbxref=dbSNP:rs1803701 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 265_265 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083212;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 268_268 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 268_268 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 268_268 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 268_268 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 271_271 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083218;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 271_271 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083218;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 272_272 365.3333333333333 525.0 not_retained Natural variant ID=VAR_083219;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 147_151 365.3333333333333 525.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 154_160 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 166_173 365.3333333333333 525.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 174_176 365.3333333333333 525.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 179_184 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 189_192 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2MHN Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 195_203 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 206_211 365.3333333333333 525.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 212_215 365.3333333333333 525.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 224_227 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 235_238 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JRS Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 250_256 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 263_270 365.3333333333333 525.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 271_273 365.3333333333333 525.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 276_283 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 285_287 365.3333333333333 525.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 288_300 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 301_311 365.3333333333333 525.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 314_316 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6PAI Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 322_325 365.3333333333333 525.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 424_431 365.3333333333333 525.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 434_436 365.3333333333333 525.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 442_454 365.3333333333333 525.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 455_458 365.3333333333333 525.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 461_465 365.3333333333333 525.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 474_477 365.3333333333333 525.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 481_491 365.3333333333333 525.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 502_506 365.3333333333333 525.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 508_514 365.3333333333333 525.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000361162 Q14498 10 17 516_519 365.3333333333333 525.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 1_1 343.3333333333333 509.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 2_530 343.3333333333333 509.0 not_retained Chain ID=PRO_0000081814;Note=RNA-binding protein 39 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 153_230 343.3333333333333 509.0 not_retained Domain Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 250_328 343.3333333333333 509.0 not_retained Domain Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 445_508 343.3333333333333 509.0 retained Domain Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 291_406 343.3333333333333 509.0 not_retained Region Note=Interaction with JUN;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 291_355 343.3333333333333 509.0 not_retained Region Note=Activating domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 355_406 343.3333333333333 509.0 retained Region Note=Interaction with ESR1 and ESR2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 406_530 343.3333333333333 509.0 retained Region Note=Interaction with NCOA6;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VH51 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 41_90 343.3333333333333 509.0 not_retained Compositional bias Note=Arg/Ser-rich (RS domain) Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 409_416 343.3333333333333 509.0 retained Compositional bias Note=Poly-Ala Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 2_2 343.3333333333333 509.0 not_retained Natural variant ID=VAR_015228;Note=A->V;Dbxref=dbSNP:rs1803701 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 95_95 343.3333333333333 509.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 97_97 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 100_100 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 117_117 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 121_121 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 136_136 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:18691976,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 146_146 343.3333333333333 509.0 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 334_334 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 337_337 343.3333333333333 509.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 341_341 343.3333333333333 509.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 111_111 343.3333333333333 509.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 119_119 343.3333333333333 509.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 244_244 343.3333333333333 509.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 100_121 343.3333333333333 509.0 not_retained Alternative sequence ID=VSP_043375;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 392_397 343.3333333333333 509.0 retained Alternative sequence ID=VSP_005820;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8227358;Dbxref=PMID:8227358 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 2_2 343.3333333333333 509.0 not_retained Natural variant ID=VAR_015228;Note=A->V;Dbxref=dbSNP:rs1803701 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 265_265 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083212;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 268_268 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 268_268 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 268_268 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 268_268 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083216;Note=Associated with resistance to anticancer indisulam%3B decreased interaction with the DCX(DCAF15) complex in presence of indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 271_271 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083218;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 271_271 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083218;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 272_272 343.3333333333333 509.0 not_retained Natural variant ID=VAR_083219;Note=Associated with resistance to anticancer indisulam%3B abolished degradation by the DCX(DCAF15) complex in presence of indisulam. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302793;Dbxref=PMID:28302793 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 147_151 343.3333333333333 509.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 154_160 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 166_173 343.3333333333333 509.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 174_176 343.3333333333333 509.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 179_184 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 189_192 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2MHN Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 195_203 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 206_211 343.3333333333333 509.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 212_215 343.3333333333333 509.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 224_227 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4YUD Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 235_238 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JRS Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 250_256 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 263_270 343.3333333333333 509.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 271_273 343.3333333333333 509.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 276_283 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 285_287 343.3333333333333 509.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 288_300 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 301_311 343.3333333333333 509.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 314_316 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6PAI Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 322_325 343.3333333333333 509.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6UD7 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 424_431 343.3333333333333 509.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 434_436 343.3333333333333 509.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 442_454 343.3333333333333 509.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 455_458 343.3333333333333 509.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 461_465 343.3333333333333 509.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 474_477 343.3333333333333 509.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 481_491 343.3333333333333 509.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 502_506 343.3333333333333 509.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 508_514 343.3333333333333 509.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene A2ML1 chr12:8988262 + RBM39 chr20:34301018 ENST00000528062 Q14498 9 16 516_519 343.3333333333333 509.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4OZ1 Tgene AAK1 chr2:69723117 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 1_22 29.333333333333332 348.6666666666667 not_retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69723117 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 23_93 29.333333333333332 348.6666666666667 not_retained Chain ID=PRO_0000041393;Note=WAP four-disulfide core domain protein 13 Tgene AAK1 chr2:69723117 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 24_73 29.333333333333332 348.6666666666667 not_retained Domain Note=WAP%3B atypical Tgene AAK1 chr2:69723117 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 45_66 29.333333333333332 348.6666666666667 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69723117 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 49_61 29.333333333333332 348.6666666666667 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69723117 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 55_70 29.333333333333332 348.6666666666667 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 1_1 95.33333333333333 380.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19413330;Dbxref=PMID:19413330 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 2_379 95.33333333333333 380.0 not_retained Chain ID=PRO_0000119746;Note=Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 112_146 95.33333333333333 380.0 retained Repeat Note=PFTA 1 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 147_180 95.33333333333333 380.0 retained Repeat Note=PFTA 2 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 181_215 95.33333333333333 380.0 retained Repeat Note=PFTA 3 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 216_249 95.33333333333333 380.0 retained Repeat Note=PFTA 4 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 255_289 95.33333333333333 380.0 retained Repeat Note=PFTA 5 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 22_31 95.33333333333333 380.0 not_retained Compositional bias Note=Pro-rich Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 2_2 95.33333333333333 380.0 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19413330;Dbxref=PMID:19413330 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 373_373 95.33333333333333 380.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 68_134 95.33333333333333 380.0 not_retained Alternative sequence ID=VSP_036468;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 164_164 95.33333333333333 380.0 retained Mutagenesis Note=Reduced activity. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8419339;Dbxref=PMID:8419339 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 199_199 95.33333333333333 380.0 retained Mutagenesis Note=Reduced catalytic efficiency. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8494894;Dbxref=PMID:8494894 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 241_241 95.33333333333333 380.0 retained Sequence conflict Note=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 66_68 95.33333333333333 380.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 70_72 95.33333333333333 380.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 87_90 95.33333333333333 380.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 94_109 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 114_126 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 131_143 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 148_161 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 166_179 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 185_195 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 200_213 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 216_218 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2F0Y Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 219_229 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 234_246 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 253_269 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 274_284 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 285_287 95.33333333333333 380.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 289_291 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 293_302 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 303_305 95.33333333333333 380.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 309_324 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 330_346 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 350_352 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000302279 P49354 1 9 353_367 95.33333333333333 380.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 1_1 0 313.0 retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19413330;Dbxref=PMID:19413330 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 2_379 0 313.0 retained Chain ID=PRO_0000119746;Note=Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 112_146 0 313.0 retained Repeat Note=PFTA 1 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 147_180 0 313.0 retained Repeat Note=PFTA 2 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 181_215 0 313.0 retained Repeat Note=PFTA 3 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 216_249 0 313.0 retained Repeat Note=PFTA 4 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 255_289 0 313.0 retained Repeat Note=PFTA 5 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 22_31 0 313.0 retained Compositional bias Note=Pro-rich Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 2_2 0 313.0 retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19413330;Dbxref=PMID:19413330 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 373_373 0 313.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 68_134 0 313.0 retained Alternative sequence ID=VSP_036468;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 164_164 0 313.0 retained Mutagenesis Note=Reduced activity. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8419339;Dbxref=PMID:8419339 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 199_199 0 313.0 retained Mutagenesis Note=Reduced catalytic efficiency. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8494894;Dbxref=PMID:8494894 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 241_241 0 313.0 retained Sequence conflict Note=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 66_68 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 70_72 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 87_90 0 313.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 94_109 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 114_126 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 131_143 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 148_161 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 166_179 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 185_195 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 200_213 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 216_218 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2F0Y Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 219_229 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 234_246 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 253_269 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 274_284 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 285_287 0 313.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 289_291 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 293_302 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 303_305 0 313.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 309_324 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 330_346 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 350_352 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - FNTA chr8:42919243 ENST00000342116 P49354 0 7 353_367 0 313.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2H6F Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 1_529 302.3333333333333 530.0 not_retained Chain ID=PRO_0000219023;Note=Nucleolar protein 58 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 282_400 302.3333333333333 530.0 not_retained Domain Note=Nop;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00690 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 441_524 302.3333333333333 530.0 retained Compositional bias Note=Lys-rich Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 34_34 302.3333333333333 530.0 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 109_109 302.3333333333333 530.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18220336,ECO:0007744|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 304_304 302.3333333333333 530.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 351_351 302.3333333333333 530.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 483_483 302.3333333333333 530.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 502_502 302.3333333333333 530.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:18691976,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 514_514 302.3333333333333 530.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:18691976,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 157_157 302.3333333333333 530.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 353_353 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 411_411 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 415_415 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:25218447;Dbxref=PMID:25218447 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 422_422 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 426_426 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 441_441 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 444_444 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 465_465 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25114211,ECO:0007744|PubMed:28112733;Dbxref=PMID:25114211,PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 467_467 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25114211,ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:25772364,ECO:0007744|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 467_467 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25114211,ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:25772364,ECO:0007744|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 467_467 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25114211,ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:25772364,ECO:0007744|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 485_485 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 497_497 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 497_497 302.3333333333333 530.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 387_387 302.3333333333333 530.0 retained Natural variant ID=VAR_059461;Note=N->T;Dbxref=dbSNP:rs34748654 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 389_389 302.3333333333333 530.0 retained Natural variant ID=VAR_059462;Note=A->P;Dbxref=dbSNP:rs34458926 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 400_400 302.3333333333333 530.0 retained Natural variant ID=VAR_059463;Note=D->A;Dbxref=dbSNP:rs35900977 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 508_508 302.3333333333333 530.0 retained Natural variant ID=VAR_059464;Note=T->P;Dbxref=dbSNP:rs34523815 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 2_2 302.3333333333333 530.0 not_retained Sequence conflict Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 129_129 302.3333333333333 530.0 not_retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 202_221 302.3333333333333 530.0 not_retained Sequence conflict Note=LTYCKCLQKVGDRKNYASAK->YHTASVYRKLAIGRLCLCQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 235_260 302.3333333333333 530.0 not_retained Sequence conflict Note=KAAAEISMGTEVSEEDICNILHLCTQ->EGSCRDIHGNRGFRRRYLQYSASLHP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732700 - NOP58 chr2:203160396 ENST00000264279 Q9Y2X3 8 15 280_280 302.3333333333333 530.0 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69732701 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 1_22 29.333333333333332 348.6666666666667 not_retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69732701 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 23_93 29.333333333333332 348.6666666666667 not_retained Chain ID=PRO_0000041393;Note=WAP four-disulfide core domain protein 13 Tgene AAK1 chr2:69732701 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 24_73 29.333333333333332 348.6666666666667 not_retained Domain Note=WAP%3B atypical Tgene AAK1 chr2:69732701 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 45_66 29.333333333333332 348.6666666666667 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69732701 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 49_61 29.333333333333332 348.6666666666667 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69732701 - WFDC13 chr20:44333083 ENST00000305479 Q8IUB5 0 4 55_70 29.333333333333332 348.6666666666667 retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69783991 - C2orf42 chr2:70377696 ENST00000264434 Q9NWW7 8 10 1_574 505.3333333333333 575.0 not_retained Chain ID=PRO_0000300121;Note=Uncharacterized protein C2orf42 Tgene AAK1 chr2:69783991 - C2orf42 chr2:70377696 ENST00000264434 Q9NWW7 8 10 314_314 505.3333333333333 575.0 not_retained Natural variant ID=VAR_050712;Note=Q->P;Dbxref=dbSNP:rs3213941 Tgene AAK1 chr2:69783991 - C2orf42 chr2:70377696 ENST00000420306 Q9NWW7 6 8 1_574 505.3333333333333 575.0 not_retained Chain ID=PRO_0000300121;Note=Uncharacterized protein C2orf42 Tgene AAK1 chr2:69783991 - C2orf42 chr2:70377696 ENST00000420306 Q9NWW7 6 8 314_314 505.3333333333333 575.0 not_retained Natural variant ID=VAR_050712;Note=Q->P;Dbxref=dbSNP:rs3213941 Tgene AAK1 chr2:69783992 - C2orf42 chr2:70377696 ENST00000264434 Q9NWW7 8 10 1_574 505.3333333333333 575.0 not_retained Chain ID=PRO_0000300121;Note=Uncharacterized protein C2orf42 Tgene AAK1 chr2:69783992 - C2orf42 chr2:70377696 ENST00000264434 Q9NWW7 8 10 314_314 505.3333333333333 575.0 not_retained Natural variant ID=VAR_050712;Note=Q->P;Dbxref=dbSNP:rs3213941 Tgene AAK1 chr2:69783992 - C2orf42 chr2:70377696 ENST00000420306 Q9NWW7 6 8 1_574 505.3333333333333 575.0 not_retained Chain ID=PRO_0000300121;Note=Uncharacterized protein C2orf42 Tgene AAK1 chr2:69783992 - C2orf42 chr2:70377696 ENST00000420306 Q9NWW7 6 8 314_314 505.3333333333333 575.0 not_retained Natural variant ID=VAR_050712;Note=Q->P;Dbxref=dbSNP:rs3213941 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 1_406 40.0 407.0 not_retained Chain ID=PRO_0000075778;Note=LIM/homeobox protein Lhx2 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 53_105 40.0 407.0 retained Domain Note=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 115_168 40.0 407.0 retained Domain Note=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 266_325 40.0 407.0 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 307_323 40.0 407.0 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 187_196 40.0 407.0 retained Compositional bias Note=Poly-Ala Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 22_28 40.0 407.0 not_retained Sequence conflict Note=AKSEAPA->QERGSR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 54_54 40.0 407.0 retained Sequence conflict Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 107_107 40.0 407.0 retained Sequence conflict Note=Y->YSPSLHGPY;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 187_187 40.0 407.0 retained Sequence conflict Note=A->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 190_192 40.0 407.0 retained Sequence conflict Note=AAA->RAR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 196_196 40.0 407.0 retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 241_242 40.0 407.0 retained Sequence conflict Note=NA->TR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - LHX2 chr9:126776240 ENST00000373615 P50458 0 5 391_406 40.0 407.0 retained Sequence conflict Note=GHEPHSPSQTTLTNLF->AMSLTAPHKRLLPTFSNDSQPPHPTISLKKKLSLV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - RPIA chr2:89028796 ENST00000283646 P49247 2 9 1_311 134.0 312.0 not_retained Chain ID=PRO_0000158521;Note=Ribose-5-phosphate isomerase Tgene AAK1 chr2:69783992 - RPIA chr2:89028796 ENST00000283646 P49247 2 9 52_52 134.0 312.0 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24129315;Dbxref=PMID:24129315 Tgene AAK1 chr2:69783992 - RPIA chr2:89028796 ENST00000283646 P49247 2 9 106_106 134.0 312.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69783992 - RPIA chr2:89028796 ENST00000283646 P49247 2 9 135_135 134.0 312.0 retained Natural variant ID=VAR_019122;Note=In RPIAD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14988808;Dbxref=dbSNP:rs121918591,PMID:14988808 Tgene AAK1 chr2:69783992 - RPIA chr2:89028796 ENST00000283646 P49247 2 9 207_207 134.0 312.0 retained Sequence conflict Note=D->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69783992 - RPIA chr2:89028796 ENST00000283646 P49247 2 9 239_239 134.0 312.0 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 1_731 537.3333333333334 732.0 not_retained Chain ID=PRO_0000055879;Note=E3 ubiquitin-protein ligase COP1 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 419_458 537.3333333333334 732.0 not_retained Repeat Note=WD 1 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 468_508 537.3333333333334 732.0 not_retained Repeat Note=WD 2 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 511_551 537.3333333333334 732.0 not_retained Repeat Note=WD 3 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 553_593 537.3333333333334 732.0 retained Repeat Note=WD 4 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 597_635 537.3333333333334 732.0 retained Repeat Note=WD 5 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 638_677 537.3333333333334 732.0 retained Repeat Note=WD 6 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 691_729 537.3333333333334 732.0 retained Repeat Note=WD 7 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 136_174 537.3333333333334 732.0 not_retained Zinc finger Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 643_645 537.3333333333334 732.0 retained Region Note=Interaction with TRIB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27041596;Dbxref=PMID:27041596 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 233_301 537.3333333333334 732.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 109_113 537.3333333333334 732.0 not_retained Motif Note=Nuclear localization signal 1 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 195_206 537.3333333333334 732.0 not_retained Motif Note=Nuclear localization signal 2 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 235_245 537.3333333333334 732.0 not_retained Motif Note=Nuclear export signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 2_110 537.3333333333334 732.0 not_retained Compositional bias Note=Ser-rich Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 472_472 537.3333333333334 732.0 not_retained Site Note=Interaction with TRIB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27041596;Dbxref=PMID:27041596 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 491_491 537.3333333333334 732.0 not_retained Site Note=Interaction with TRIB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27041596;Dbxref=PMID:27041596 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 1_264 537.3333333333334 732.0 not_retained Alternative sequence ID=VSP_012026;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 157_157 537.3333333333334 732.0 not_retained Alternative sequence ID=VSP_055894;Note=In isoform 5. Y->E;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 158_731 537.3333333333334 732.0 not_retained Alternative sequence ID=VSP_055895;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 211_214 537.3333333333334 732.0 not_retained Alternative sequence ID=VSP_012024;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14739464;Dbxref=PMID:14739464 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 277_296 537.3333333333334 732.0 not_retained Alternative sequence ID=VSP_012025;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14739464;Dbxref=PMID:14739464 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 342_342 537.3333333333334 732.0 not_retained Alternative sequence ID=VSP_012027;Note=In isoform 3. Q->QAGVQWRYLGSLQPPPPRYKRFSCLTLPSSWDYRRLPPHL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 111_113 537.3333333333334 732.0 not_retained Mutagenesis Note=Abolishes localization to the nucleus. RKR->AKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12615916;Dbxref=PMID:12615916 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 136_136 537.3333333333334 732.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-139. Loss of stabilization by COPS6%3B when associated with S-139. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 136_136 537.3333333333334 732.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-139. Loss of stabilization by COPS6%3B when associated with S-139. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 139_139 537.3333333333334 732.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-136. Loss of stabilization by COPS6%3B when associated with S-136. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 139_139 537.3333333333334 732.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-136. Loss of stabilization by COPS6%3B when associated with S-136. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 156_156 537.3333333333334 732.0 not_retained Mutagenesis Note=Loss of MTA1 ubiquitination and degradation%3B when associated with S-159. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805145;Dbxref=PMID:19805145 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 159_159 537.3333333333334 732.0 not_retained Mutagenesis Note=Loss of MTA1 ubiquitination and degradation%3B when associated with S-156. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805145;Dbxref=PMID:19805145 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 392_399 537.3333333333334 732.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 404_412 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 424_429 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 433_440 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 443_449 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 450_453 537.3333333333334 732.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 464_468 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 473_478 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 485_490 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 495_499 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 500_502 537.3333333333334 732.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 505_509 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 516_521 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 528_533 537.3333333333334 732.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 536_542 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 549_553 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 558_563 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 570_575 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 580_584 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 592_595 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 602_617 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 618_620 537.3333333333334 732.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 621_626 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 633_636 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 642_644 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 648_651 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 654_658 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 662_668 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 676_679 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 700_705 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 709_711 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 715_720 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000367669 Q8NHY2 13 20 723_731 537.3333333333334 732.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 1_731 513.3333333333334 708.0 not_retained Chain ID=PRO_0000055879;Note=E3 ubiquitin-protein ligase COP1 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 419_458 513.3333333333334 708.0 not_retained Repeat Note=WD 1 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 468_508 513.3333333333334 708.0 not_retained Repeat Note=WD 2 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 511_551 513.3333333333334 708.0 retained Repeat Note=WD 3 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 553_593 513.3333333333334 708.0 retained Repeat Note=WD 4 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 597_635 513.3333333333334 708.0 retained Repeat Note=WD 5 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 638_677 513.3333333333334 708.0 retained Repeat Note=WD 6 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 691_729 513.3333333333334 708.0 retained Repeat Note=WD 7 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 136_174 513.3333333333334 708.0 not_retained Zinc finger Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 643_645 513.3333333333334 708.0 retained Region Note=Interaction with TRIB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27041596;Dbxref=PMID:27041596 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 233_301 513.3333333333334 708.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 109_113 513.3333333333334 708.0 not_retained Motif Note=Nuclear localization signal 1 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 195_206 513.3333333333334 708.0 not_retained Motif Note=Nuclear localization signal 2 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 235_245 513.3333333333334 708.0 not_retained Motif Note=Nuclear export signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 2_110 513.3333333333334 708.0 not_retained Compositional bias Note=Ser-rich Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 472_472 513.3333333333334 708.0 not_retained Site Note=Interaction with TRIB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27041596;Dbxref=PMID:27041596 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 491_491 513.3333333333334 708.0 not_retained Site Note=Interaction with TRIB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27041596;Dbxref=PMID:27041596 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 1_264 513.3333333333334 708.0 not_retained Alternative sequence ID=VSP_012026;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 157_157 513.3333333333334 708.0 not_retained Alternative sequence ID=VSP_055894;Note=In isoform 5. Y->E;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 158_731 513.3333333333334 708.0 not_retained Alternative sequence ID=VSP_055895;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 211_214 513.3333333333334 708.0 not_retained Alternative sequence ID=VSP_012024;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14739464;Dbxref=PMID:14739464 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 277_296 513.3333333333334 708.0 not_retained Alternative sequence ID=VSP_012025;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14739464;Dbxref=PMID:14739464 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 342_342 513.3333333333334 708.0 not_retained Alternative sequence ID=VSP_012027;Note=In isoform 3. Q->QAGVQWRYLGSLQPPPPRYKRFSCLTLPSSWDYRRLPPHL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 111_113 513.3333333333334 708.0 not_retained Mutagenesis Note=Abolishes localization to the nucleus. RKR->AKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12615916;Dbxref=PMID:12615916 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 136_136 513.3333333333334 708.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-139. Loss of stabilization by COPS6%3B when associated with S-139. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 136_136 513.3333333333334 708.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-139. Loss of stabilization by COPS6%3B when associated with S-139. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 139_139 513.3333333333334 708.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-136. Loss of stabilization by COPS6%3B when associated with S-136. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 139_139 513.3333333333334 708.0 not_retained Mutagenesis Note=Loss of SFN and MTA1 ubiquitination and degradation%3B when associated with S-136. Loss of stabilization by COPS6%3B when associated with S-136. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12615916,ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:19805145,ECO:0000269|PubMed:21625211;Dbxref=PMID:12615916,PMID:14739464,PMID:19805145,PMID:21625211 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 156_156 513.3333333333334 708.0 not_retained Mutagenesis Note=Loss of MTA1 ubiquitination and degradation%3B when associated with S-159. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805145;Dbxref=PMID:19805145 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 159_159 513.3333333333334 708.0 not_retained Mutagenesis Note=Loss of MTA1 ubiquitination and degradation%3B when associated with S-156. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805145;Dbxref=PMID:19805145 Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 392_399 513.3333333333334 708.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 404_412 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 424_429 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 433_440 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 443_449 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 450_453 513.3333333333334 708.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 464_468 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 473_478 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 485_490 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 495_499 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 500_502 513.3333333333334 708.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 505_509 513.3333333333334 708.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 516_521 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 528_533 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 536_542 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 549_553 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 558_563 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 570_575 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 580_584 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 592_595 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 602_617 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 618_620 513.3333333333334 708.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 621_626 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 633_636 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 642_644 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 648_651 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 654_658 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 662_668 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 676_679 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 700_705 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 709_711 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 715_720 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - RFWD2 chr1:175996824 ENST00000308769 Q8NHY2 12 19 723_731 513.3333333333334 708.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:5HQG Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 1_306 94.0 259.0 not_retained Chain ID=PRO_0000240868;Note=Protein YIPF1 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 1_119 94.0 259.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 120_140 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 141_162 94.0 259.0 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 163_183 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 184_200 94.0 259.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 201_221 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 222_227 94.0 259.0 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 228_248 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 249_256 94.0 259.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 257_277 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 278_306 94.0 259.0 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 297_297 94.0 259.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 1_183 94.0 259.0 not_retained Alternative sequence ID=VSP_019437;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 109_109 94.0 259.0 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 1_306 277.0 422.6666666666667 not_retained Chain ID=PRO_0000240868;Note=Protein YIPF1 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 1_119 277.0 422.6666666666667 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 120_140 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 141_162 277.0 422.6666666666667 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 163_183 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 184_200 277.0 422.6666666666667 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 201_221 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 222_227 277.0 422.6666666666667 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 228_248 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 249_256 277.0 422.6666666666667 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 257_277 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 278_306 277.0 422.6666666666667 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 297_297 277.0 422.6666666666667 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 1_183 277.0 422.6666666666667 not_retained Alternative sequence ID=VSP_019437;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870009 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 109_109 277.0 422.6666666666667 not_retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 1_1 5.333333333333333 382.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 2_381 5.333333333333333 382.0 not_retained Chain ID=PRO_0000349219;Note=E3 ubiquitin-protein ligase KCMF1 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 3_50 5.333333333333333 382.0 retained Zinc finger Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00228 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 78_101 5.333333333333333 382.0 retained Zinc finger Note=C2H2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 225_257 5.333333333333333 382.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 333_336 5.333333333333333 382.0 retained Compositional bias Note=Poly-Ser Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 376_380 5.333333333333333 382.0 retained Compositional bias Note=Poly-Pro Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 2_2 5.333333333333333 382.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 2_2 5.333333333333333 382.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 169_169 5.333333333333333 382.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 189_189 5.333333333333333 382.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 212_212 5.333333333333333 382.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 335_335 5.333333333333333 382.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 336_336 5.333333333333333 382.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 95_95 5.333333333333333 382.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 242_242 5.333333333333333 382.0 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - KCMF1 chr2:85255012 ENST00000409785 Q9P0J7 0 7 242_242 5.333333333333333 382.0 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 1_9 55.333333333333336 255.0 not_retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 10_254 55.333333333333336 255.0 not_retained Chain ID=PRO_0000166191;Note=NFU1 iron-sulfur cluster scaffold homolog%2C mitochondrial Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 173_241 55.333333333333336 255.0 retained Region Note=NifU Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 210_210 55.333333333333336 255.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 213_213 55.333333333333336 255.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 1_141 55.333333333333336 255.0 not_retained Alternative sequence ID=VSP_041224;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 1_24 55.333333333333336 255.0 not_retained Alternative sequence ID=VSP_041225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10810093,ECO:0000303|PubMed:11342215,ECO:0000303|PubMed:12886008;Dbxref=PMID:10810093,PMID:11342215,PMID:12886008 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 21_21 55.333333333333336 255.0 not_retained Natural variant ID=VAR_079757;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs776875884,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 25_25 55.333333333333336 255.0 not_retained Natural variant ID=VAR_044429;Note=M->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12915448,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs4453725,PMID:12915448,PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 182_182 55.333333333333336 255.0 retained Natural variant ID=VAR_079758;Note=In MMDS1%3B patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs1354126704,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 189_189 55.333333333333336 255.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 190_190 55.333333333333336 255.0 retained Natural variant ID=VAR_079760;Note=In MMDS1%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 208_208 55.333333333333336 255.0 retained Natural variant ID=VAR_066639;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes%3B increases homodimerization%3B unable to receive a Fe/S clusters from donor proteins%3B changes delivery rates of [2Fe-2S] cluster to target proteins. G->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22077971,ECO:0000269|PubMed:25918518,ECO:0000269|PubMed:28161430;Dbxref=dbSNP:rs374514431,PMID:22077971,PMID:25918518,PMID:28161430 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 189_189 55.333333333333336 255.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 189_189 55.333333333333336 255.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 158_158 55.333333333333336 255.0 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 62_64 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 71_75 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 80_83 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 86_88 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 93_96 55.333333333333336 255.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 98_103 55.333333333333336 255.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 109_115 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 118_125 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 130_147 55.333333333333336 255.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 167_188 55.333333333333336 255.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 192_198 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 201_206 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 208_212 55.333333333333336 255.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 214_231 55.333333333333336 255.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000410022 Q9UMS0 1 8 237_240 55.333333333333336 255.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 1_9 31.333333333333332 231.0 not_retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 10_254 31.333333333333332 231.0 not_retained Chain ID=PRO_0000166191;Note=NFU1 iron-sulfur cluster scaffold homolog%2C mitochondrial Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 173_241 31.333333333333332 231.0 retained Region Note=NifU Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 210_210 31.333333333333332 231.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 213_213 31.333333333333332 231.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 1_141 31.333333333333332 231.0 not_retained Alternative sequence ID=VSP_041224;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 1_24 31.333333333333332 231.0 not_retained Alternative sequence ID=VSP_041225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10810093,ECO:0000303|PubMed:11342215,ECO:0000303|PubMed:12886008;Dbxref=PMID:10810093,PMID:11342215,PMID:12886008 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 21_21 31.333333333333332 231.0 not_retained Natural variant ID=VAR_079757;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs776875884,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 25_25 31.333333333333332 231.0 not_retained Natural variant ID=VAR_044429;Note=M->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12915448,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs4453725,PMID:12915448,PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 182_182 31.333333333333332 231.0 retained Natural variant ID=VAR_079758;Note=In MMDS1%3B patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs1354126704,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 189_189 31.333333333333332 231.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 190_190 31.333333333333332 231.0 retained Natural variant ID=VAR_079760;Note=In MMDS1%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 208_208 31.333333333333332 231.0 retained Natural variant ID=VAR_066639;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes%3B increases homodimerization%3B unable to receive a Fe/S clusters from donor proteins%3B changes delivery rates of [2Fe-2S] cluster to target proteins. G->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22077971,ECO:0000269|PubMed:25918518,ECO:0000269|PubMed:28161430;Dbxref=dbSNP:rs374514431,PMID:22077971,PMID:25918518,PMID:28161430 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 189_189 31.333333333333332 231.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 189_189 31.333333333333332 231.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 158_158 31.333333333333332 231.0 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 62_64 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 71_75 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 80_83 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 86_88 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 93_96 31.333333333333332 231.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 98_103 31.333333333333332 231.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 109_115 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 118_125 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 130_147 31.333333333333332 231.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 167_188 31.333333333333332 231.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 192_198 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 201_206 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 208_212 31.333333333333332 231.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 214_231 31.333333333333332 231.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000303698 Q9UMS0 1 8 237_240 31.333333333333332 231.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 1_9 0 114.0 retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 10_254 0 114.0 retained Chain ID=PRO_0000166191;Note=NFU1 iron-sulfur cluster scaffold homolog%2C mitochondrial Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 173_241 0 114.0 retained Region Note=NifU Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 210_210 0 114.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 213_213 0 114.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 1_141 0 114.0 retained Alternative sequence ID=VSP_041224;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 1_24 0 114.0 retained Alternative sequence ID=VSP_041225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10810093,ECO:0000303|PubMed:11342215,ECO:0000303|PubMed:12886008;Dbxref=PMID:10810093,PMID:11342215,PMID:12886008 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 21_21 0 114.0 retained Natural variant ID=VAR_079757;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs776875884,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 25_25 0 114.0 retained Natural variant ID=VAR_044429;Note=M->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12915448,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs4453725,PMID:12915448,PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 182_182 0 114.0 retained Natural variant ID=VAR_079758;Note=In MMDS1%3B patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs1354126704,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 189_189 0 114.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 190_190 0 114.0 retained Natural variant ID=VAR_079760;Note=In MMDS1%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 208_208 0 114.0 retained Natural variant ID=VAR_066639;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes%3B increases homodimerization%3B unable to receive a Fe/S clusters from donor proteins%3B changes delivery rates of [2Fe-2S] cluster to target proteins. G->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22077971,ECO:0000269|PubMed:25918518,ECO:0000269|PubMed:28161430;Dbxref=dbSNP:rs374514431,PMID:22077971,PMID:25918518,PMID:28161430 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 189_189 0 114.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 189_189 0 114.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 158_158 0 114.0 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 62_64 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 71_75 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 80_83 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 86_88 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 93_96 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 98_103 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 109_115 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 118_125 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 130_147 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 167_188 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 192_198 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 201_206 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 208_212 0 114.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 214_231 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000394305 Q9UMS0 0 7 237_240 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 1_9 0 114.0 retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 10_254 0 114.0 retained Chain ID=PRO_0000166191;Note=NFU1 iron-sulfur cluster scaffold homolog%2C mitochondrial Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 173_241 0 114.0 retained Region Note=NifU Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 210_210 0 114.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 213_213 0 114.0 retained Metal binding Note=Iron-sulfur (4Fe-4S)%3B shared with dimeric partner;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27818104;Dbxref=PMID:27818104 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 1_141 0 114.0 retained Alternative sequence ID=VSP_041224;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 1_24 0 114.0 retained Alternative sequence ID=VSP_041225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10810093,ECO:0000303|PubMed:11342215,ECO:0000303|PubMed:12886008;Dbxref=PMID:10810093,PMID:11342215,PMID:12886008 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 21_21 0 114.0 retained Natural variant ID=VAR_079757;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs776875884,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 25_25 0 114.0 retained Natural variant ID=VAR_044429;Note=M->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12915448,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs4453725,PMID:12915448,PMID:14702039 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 182_182 0 114.0 retained Natural variant ID=VAR_079758;Note=In MMDS1%3B patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=dbSNP:rs1354126704,PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 189_189 0 114.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 190_190 0 114.0 retained Natural variant ID=VAR_079760;Note=In MMDS1%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25918518;Dbxref=PMID:25918518 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 208_208 0 114.0 retained Natural variant ID=VAR_066639;Note=In MMDS1%3B patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes%3B increases homodimerization%3B unable to receive a Fe/S clusters from donor proteins%3B changes delivery rates of [2Fe-2S] cluster to target proteins. G->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22077971,ECO:0000269|PubMed:25918518,ECO:0000269|PubMed:28161430;Dbxref=dbSNP:rs374514431,PMID:22077971,PMID:25918518,PMID:28161430 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 189_189 0 114.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 189_189 0 114.0 retained Mutagenesis Note=Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. G->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28906594;Dbxref=PMID:28906594 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 158_158 0 114.0 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 62_64 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 71_75 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 80_83 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 86_88 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 93_96 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 98_103 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 109_115 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 118_125 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 130_147 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2LTM Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 167_188 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 192_198 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 201_206 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 208_212 0 114.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 214_231 0 114.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - NFU1 chr2:69650849 ENST00000462320 Q9UMS0 0 5 237_240 0 114.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2M5O Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 1_306 94.0 259.0 not_retained Chain ID=PRO_0000240868;Note=Protein YIPF1 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 1_119 94.0 259.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 120_140 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 141_162 94.0 259.0 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 163_183 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 184_200 94.0 259.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 201_221 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 222_227 94.0 259.0 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 228_248 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 249_256 94.0 259.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 257_277 94.0 259.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 278_306 94.0 259.0 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 297_297 94.0 259.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 1_183 94.0 259.0 not_retained Alternative sequence ID=VSP_019437;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000371399 Q9Y548 6 9 109_109 94.0 259.0 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 1_306 277.0 422.6666666666667 not_retained Chain ID=PRO_0000240868;Note=Protein YIPF1 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 1_119 277.0 422.6666666666667 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 120_140 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 141_162 277.0 422.6666666666667 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 163_183 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 184_200 277.0 422.6666666666667 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 201_221 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 222_227 277.0 422.6666666666667 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 228_248 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 249_256 277.0 422.6666666666667 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 257_277 277.0 422.6666666666667 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 278_306 277.0 422.6666666666667 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27999994;Dbxref=PMID:27999994 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 297_297 277.0 422.6666666666667 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 1_183 277.0 422.6666666666667 not_retained Alternative sequence ID=VSP_019437;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AAK1 chr2:69870010 - YIPF1 chr1:54325826 ENST00000072644 Q9Y548 8 11 109_109 277.0 422.6666666666667 not_retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 1_726 49.333333333333336 727.0 not_retained Chain ID=PRO_0000247278;Note=Ankyrin repeat and zinc finger domain-containing protein 1 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 493_526 49.333333333333336 727.0 retained Repeat Note=ANK 1 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 534_563 49.333333333333336 727.0 retained Repeat Note=ANK 2 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 72_96 49.333333333333336 727.0 retained Zinc finger Note=C2H2-type Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 654_666 49.333333333333336 727.0 retained Region Note=VCP/p97-interacting motif (VIM);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21896481;Dbxref=PMID:21896481 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 609_659 49.333333333333336 727.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 258_258 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 361_361 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 398_398 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 533_533 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 607_607 49.333333333333336 727.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 675_675 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 680_680 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 32_87 49.333333333333336 727.0 not_retained Natural variant ID=VAR_079136;Note=Found in a patient with infantile-onset inflammatory bowel disease%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 152_152 49.333333333333336 727.0 retained Natural variant ID=VAR_079137;Note=Found in a patient with infantile-onset inflammatory bowel disease%3B unknown pathological significance%3B decreased function in cellular response to hydrogen peroxide%3B does not affect protein abundance%3B does not affect interaction with VCP. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=dbSNP:rs149382949,PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 569_569 49.333333333333336 727.0 retained Natural variant ID=VAR_048269;Note=R->W;Dbxref=dbSNP:rs2293076 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 585_585 49.333333333333336 727.0 retained Natural variant ID=VAR_079138;Note=Found in a patient with infantile-onset inflammatory bowel disease%3B unknown pathological significance%3B decreased function in cellular response to hydrogen peroxide%3B decreased protein abundance%3B does not affect interaction with VCP. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=dbSNP:rs189875478,PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 638_638 49.333333333333336 727.0 retained Natural variant ID=VAR_079139;Note=Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 676_676 49.333333333333336 727.0 retained Natural variant ID=VAR_048270;Note=P->L;Dbxref=dbSNP:rs2293079 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000323348 Q9H8Y5 1 14 661_662 49.333333333333336 727.0 retained Mutagenesis Note=Abolishes interaction with VCP. AA->LL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21896481;Dbxref=PMID:21896481 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 1_726 49.333333333333336 727.0 not_retained Chain ID=PRO_0000247278;Note=Ankyrin repeat and zinc finger domain-containing protein 1 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 493_526 49.333333333333336 727.0 retained Repeat Note=ANK 1 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 534_563 49.333333333333336 727.0 retained Repeat Note=ANK 2 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 72_96 49.333333333333336 727.0 retained Zinc finger Note=C2H2-type Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 654_666 49.333333333333336 727.0 retained Region Note=VCP/p97-interacting motif (VIM);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21896481;Dbxref=PMID:21896481 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 609_659 49.333333333333336 727.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 258_258 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 361_361 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 398_398 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 533_533 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 607_607 49.333333333333336 727.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 675_675 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 680_680 49.333333333333336 727.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 32_87 49.333333333333336 727.0 not_retained Natural variant ID=VAR_079136;Note=Found in a patient with infantile-onset inflammatory bowel disease%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 152_152 49.333333333333336 727.0 retained Natural variant ID=VAR_079137;Note=Found in a patient with infantile-onset inflammatory bowel disease%3B unknown pathological significance%3B decreased function in cellular response to hydrogen peroxide%3B does not affect protein abundance%3B does not affect interaction with VCP. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=dbSNP:rs149382949,PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 569_569 49.333333333333336 727.0 retained Natural variant ID=VAR_048269;Note=R->W;Dbxref=dbSNP:rs2293076 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 585_585 49.333333333333336 727.0 retained Natural variant ID=VAR_079138;Note=Found in a patient with infantile-onset inflammatory bowel disease%3B unknown pathological significance%3B decreased function in cellular response to hydrogen peroxide%3B decreased protein abundance%3B does not affect interaction with VCP. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=dbSNP:rs189875478,PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 638_638 49.333333333333336 727.0 retained Natural variant ID=VAR_079139;Note=Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28302725;Dbxref=PMID:28302725 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 676_676 49.333333333333336 727.0 retained Natural variant ID=VAR_048270;Note=P->L;Dbxref=dbSNP:rs2293079 Tgene AAMP chr2:219134105 - ANKZF1 chr2:220096650 ENST00000410034 Q9H8Y5 1 14 661_662 49.333333333333336 727.0 retained Mutagenesis Note=Abolishes interaction with VCP. AA->LL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21896481;Dbxref=PMID:21896481 Tgene AAMP chr2:219134105 - MARCH4 chr2:217124402 ENST00000273067 Q9P2E8 2 4 1_18 288.3333333333333 411.0 not_retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAMP chr2:219134105 - MARCH4 chr2:217124402 ENST00000273067 Q9P2E8 2 4 19_410 288.3333333333333 411.0 not_retained Chain ID=PRO_0000055930;Note=E3 ubiquitin-protein ligase MARCHF4 Tgene AAMP chr2:219134105 - MARCH4 chr2:217124402 ENST00000273067 Q9P2E8 2 4 238_258 288.3333333333333 411.0 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAMP chr2:219134105 - MARCH4 chr2:217124402 ENST00000273067 Q9P2E8 2 4 272_292 288.3333333333333 411.0 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AAMP chr2:219134105 - MARCH4 chr2:217124402 ENST00000273067 Q9P2E8 2 4 155_215 288.3333333333333 411.0 not_retained Zinc finger Note=RING-CH-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00623 Tgene AAMP chr2:219134105 - MARCH4 chr2:217124402 ENST00000273067 Q9P2E8 2 4 57_127 288.3333333333333 411.0 not_retained Compositional bias Note=Pro-rich Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000323108 Q496A3 2 9 1_300 95.66666666666667 301.0 not_retained Chain ID=PRO_0000307694;Note=Spermatogenesis-associated serine-rich protein 1 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000323108 Q496A3 2 9 69_75 95.66666666666667 301.0 not_retained Compositional bias Note=Poly-Ser Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000323108 Q496A3 2 9 113_113 95.66666666666667 301.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q811V6 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000323108 Q496A3 2 9 1_115 95.66666666666667 301.0 not_retained Alternative sequence ID=VSP_028787;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000323108 Q496A3 2 9 8_8 95.66666666666667 301.0 not_retained Natural variant ID=VAR_036631;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10948132,PMID:15489334 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000323108 Q496A3 2 9 277_277 95.66666666666667 301.0 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000288390 Q496A3 1 8 1_300 95.66666666666667 301.0 not_retained Chain ID=PRO_0000307694;Note=Spermatogenesis-associated serine-rich protein 1 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000288390 Q496A3 1 8 69_75 95.66666666666667 301.0 not_retained Compositional bias Note=Poly-Ser Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000288390 Q496A3 1 8 113_113 95.66666666666667 301.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q811V6 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000288390 Q496A3 1 8 1_115 95.66666666666667 301.0 not_retained Alternative sequence ID=VSP_028787;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000288390 Q496A3 1 8 8_8 95.66666666666667 301.0 not_retained Natural variant ID=VAR_036631;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10948132,PMID:15489334 Tgene AARS2 chr6:44278730 - SPATS1 chr6:44328182 ENST00000288390 Q496A3 1 8 277_277 95.66666666666667 301.0 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000323108 Q496A3 2 9 1_300 95.66666666666667 301.0 not_retained Chain ID=PRO_0000307694;Note=Spermatogenesis-associated serine-rich protein 1 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000323108 Q496A3 2 9 69_75 95.66666666666667 301.0 not_retained Compositional bias Note=Poly-Ser Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000323108 Q496A3 2 9 113_113 95.66666666666667 301.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q811V6 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000323108 Q496A3 2 9 1_115 95.66666666666667 301.0 not_retained Alternative sequence ID=VSP_028787;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000323108 Q496A3 2 9 8_8 95.66666666666667 301.0 not_retained Natural variant ID=VAR_036631;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10948132,PMID:15489334 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000323108 Q496A3 2 9 277_277 95.66666666666667 301.0 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000288390 Q496A3 1 8 1_300 95.66666666666667 301.0 not_retained Chain ID=PRO_0000307694;Note=Spermatogenesis-associated serine-rich protein 1 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000288390 Q496A3 1 8 69_75 95.66666666666667 301.0 not_retained Compositional bias Note=Poly-Ser Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000288390 Q496A3 1 8 113_113 95.66666666666667 301.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q811V6 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000288390 Q496A3 1 8 1_115 95.66666666666667 301.0 not_retained Alternative sequence ID=VSP_028787;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000288390 Q496A3 1 8 8_8 95.66666666666667 301.0 not_retained Natural variant ID=VAR_036631;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10948132,PMID:15489334 Tgene AARS2 chr6:44278731 - SPATS1 chr6:44328183 ENST00000288390 Q496A3 1 8 277_277 95.66666666666667 301.0 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 1_1 53.0 338.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22814378;Dbxref=PMID:19413330,PMID:22814378 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_785 53.0 338.0 not_retained Chain ID=PRO_0000213504;Note=Conserved oligomeric Golgi complex subunit 4 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_84 53.0 338.0 not_retained Region Note=Interaction with SCFD1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19536132;Dbxref=PMID:19536132 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 85_153 53.0 338.0 retained Region Note=Interaction with STX5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19536132;Dbxref=PMID:19536132 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 618_740 53.0 338.0 retained Region Note=D domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 741_785 53.0 338.0 retained Region Note=E domain%3B essential for proper cell surface glycosylation;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_2 53.0 338.0 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22814378;Dbxref=PMID:19413330,PMID:22814378 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 6_6 53.0 338.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 1_73 53.0 338.0 not_retained Alternative sequence ID=VSP_037551;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 331_337 53.0 338.0 retained Alternative sequence ID=VSP_001127;Note=In isoform 2. FRHVQNN->NFVFSFF;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 338_785 53.0 338.0 retained Alternative sequence ID=VSP_001128;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 158_158 53.0 338.0 retained Natural variant ID=VAR_058009;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.1;Dbxref=dbSNP:rs3931036,PMID:14702039,PMID:15489334 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 512_512 53.0 338.0 retained Natural variant ID=VAR_081564;Note=In SWILS%3B delayed anterograde vesicular trafficking from the ER to the Golgi and accelerated retrograde vesicular recycling from the Golgi to the ER%2C leading to a decrease in Golgi volume%2C as well as morphologic abnormalities with collapse of the Golgi stacks in affected fibroblasts%3B altered decorin/DCN Golgi-dependent glycosylation%3B no effect on protein expression. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30290151;Dbxref=dbSNP:rs1555575860,PMID:30290151 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 729_729 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 729_729 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 764_764 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 177_177 53.0 338.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 234_234 53.0 338.0 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 285_285 53.0 338.0 retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 486_486 53.0 338.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 588_588 53.0 338.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 588_588 53.0 338.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 644_644 53.0 338.0 retained Sequence conflict Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 537_572 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 573_575 53.0 338.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 580_615 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 617_625 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 626_629 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 636_644 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 649_666 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 669_691 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 698_716 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 723_726 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 728_737 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 742_747 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 750_753 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 762_769 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70288524 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 777_782 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 1_350 293.0 351.0 not_retained Chain ID=PRO_0000149258;Note=CMP-N-acetylneuraminate-beta-galactosamide-alpha-2%2C3-sialyltransferase 2 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 1_6 293.0 351.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 7_27 293.0 351.0 not_retained Transmembrane Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 28_350 293.0 351.0 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 116_116 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 157_157 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 180_180 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 240_240 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 276_276 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 280_280 293.0 351.0 not_retained Binding site Note=Substrate%3B via amide nitrogen;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 300_300 293.0 351.0 retained Binding site Note=Substrate%3B via amide nitrogen;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 309_309 293.0 351.0 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 326_326 293.0 351.0 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 211_211 293.0 351.0 not_retained Mutagenesis Note=Impairs N-glycosylation. Impairs exit from the endoplasmic reticulum. Decreases sialyltransferase activity. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25916169;Dbxref=PMID:25916169 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 70_75 293.0 351.0 not_retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 72_149 293.0 351.0 not_retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 152_291 293.0 351.0 not_retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 92_92 293.0 351.0 not_retained Mutagenesis Note=Has a moderate effect on N-glycosylation and sialyltransferase activity%3B when associated with Q-211. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25916169;Dbxref=PMID:25916169 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000342907 Q16842 5 7 211_211 293.0 351.0 not_retained Mutagenesis Note=Impairs N-glycosylation. Impairs exit from the endoplasmic reticulum. Decreases sialyltransferase activity. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25916169;Dbxref=PMID:25916169 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 1_350 293.0 351.0 not_retained Chain ID=PRO_0000149258;Note=CMP-N-acetylneuraminate-beta-galactosamide-alpha-2%2C3-sialyltransferase 2 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 1_6 293.0 351.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 7_27 293.0 351.0 not_retained Transmembrane Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 28_350 293.0 351.0 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 116_116 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 157_157 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 180_180 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 240_240 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 276_276 293.0 351.0 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 280_280 293.0 351.0 not_retained Binding site Note=Substrate%3B via amide nitrogen;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 300_300 293.0 351.0 retained Binding site Note=Substrate%3B via amide nitrogen;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 309_309 293.0 351.0 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 326_326 293.0 351.0 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 211_211 293.0 351.0 not_retained Mutagenesis Note=Impairs N-glycosylation. Impairs exit from the endoplasmic reticulum. Decreases sialyltransferase activity. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25916169;Dbxref=PMID:25916169 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 70_75 293.0 351.0 not_retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 72_149 293.0 351.0 not_retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 152_291 293.0 351.0 not_retained Disulfide bond Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 92_92 293.0 351.0 not_retained Mutagenesis Note=Has a moderate effect on N-glycosylation and sialyltransferase activity%3B when associated with Q-211. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25916169;Dbxref=PMID:25916169 Tgene AARS chr16:70303521 - ST3GAL2 chr16:70415765 ENST00000393640 Q16842 4 6 211_211 293.0 351.0 not_retained Mutagenesis Note=Impairs N-glycosylation. Impairs exit from the endoplasmic reticulum. Decreases sialyltransferase activity. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25916169;Dbxref=PMID:25916169 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1_2537 1793.0 1942.0 not_retained Chain ID=PRO_0000312495;Note=Centrosomal protein of 192 kDa Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 812_812 1793.0 1942.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1755_1755 1793.0 1942.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2098_2098 1793.0 1942.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2110_2110 1793.0 1942.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2313_2313 1793.0 1942.0 retained Mutagenesis Note=Increased presence on interphasic centrosomes%2C and decreased presence on mitotic centrosomes%3B no ubiquitination and unchanged levels in response to hypoxia. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23932902;Dbxref=PMID:23932902 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1_603 1793.0 1942.0 not_retained Alternative sequence ID=VSP_059657;Note=In isoform 1 and isoform 2. MEDFRGIAEESFPSFLTNSLFGNSGILENVTLSSNLGLPVAVSTLARDRSSTDNRYPDIQASYLVEGRFSVPSGSSPGSQSDAEPRERLQLSFQDDDSISRKKSYVESQRLSNALSKQSALQMETAGPEEEPAGATESLQGQDLFNRASPLEQAQDSPIDFHLQSWMNNKEPKIVVLDAGKHFEDKTLKSDLSHTSLLENEKLILPTSLEDSSDDDIDDEMFYDDHLEAYFEQLAIPGMIYEDLEGPEPPEKGFKLPTNGLRQANENGSLNCKFQSENNSSLISLDSHSSETTHKESEESQVICLPGTSNSIGTGDSRRYTDGMLPFSSGTWGTEKEIENLKGIVPDLNSECASKDVLVKTLRAIDVKLNSDNFHDANANRGGFDLTDPVKQGAECPHQNKTVLHMDGCLDTETPTVSIQENVDVASLKPISDSGINFTDAIWSPTCERRTCECHESIEKNKDKTDLPQSVVYQNEEGRWVTDLAYYTSFNSKQNLNVSLSDEMNEDFRSGSEAFDLIAQDEEEFNKEHQFIQEENIDAHNTSVALGDTSWGATINYSLLRKSRSTSDLDKDDASYLRLSLGEFFAQRSEALGCLGGGNNVKR->MKTSDLV Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1999_2003 1793.0 1942.0 retained Alternative sequence ID=VSP_059658;Note=In isoform 2. ALLHK->QGPAT Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2004_2537 1793.0 1942.0 retained Alternative sequence ID=VSP_059659;Note=In isoform 2. Missing Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1053_1053 1793.0 1942.0 not_retained Natural variant ID=VAR_037514;Note=T->A;Dbxref=dbSNP:rs10048340 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1109_1109 1793.0 1942.0 not_retained Natural variant ID=VAR_050782;Note=Q->P;Dbxref=dbSNP:rs11080623 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1365_1365 1793.0 1942.0 not_retained Natural variant ID=VAR_037515;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11230166;Dbxref=dbSNP:rs2282542,PMID:11230166 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1544_1544 1793.0 1942.0 not_retained Natural variant ID=VAR_050783;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:15498874;Dbxref=dbSNP:rs7228940,PMID:11230166,PMID:15498874 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1552_1552 1793.0 1942.0 not_retained Natural variant ID=VAR_050784;Note=S->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:12693554,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15498874;Dbxref=dbSNP:rs578208,PMID:11230166,PMID:12693554,PMID:15489334,PMID:15498874 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1701_1701 1793.0 1942.0 not_retained Natural variant ID=VAR_050785;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:12693554,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15498874;Dbxref=dbSNP:rs6505780,PMID:11230166,PMID:12693554,PMID:15489334,PMID:15498874 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2051_2051 1793.0 1942.0 retained Natural variant ID=VAR_050786;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12693554;Dbxref=dbSNP:rs2027698,PMID:12693554 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2121_2121 1793.0 1942.0 retained Natural variant ID=VAR_050787;Note=L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:12693554,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs474337,PMID:11230166,PMID:12693554,PMID:14702039,PMID:15489334 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2271_2271 1793.0 1942.0 retained Natural variant ID=VAR_050788;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12693554;Dbxref=dbSNP:rs3737379,PMID:12693554 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2449_2449 1793.0 1942.0 retained Natural variant ID=VAR_050789;Note=R->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:12693554,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1786263,PMID:11230166,PMID:12693554,PMID:14702039,PMID:15489334 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2313_2313 1793.0 1942.0 retained Mutagenesis Note=Increased presence on interphasic centrosomes%2C and decreased presence on mitotic centrosomes%3B no ubiquitination and unchanged levels in response to hypoxia. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23932902;Dbxref=PMID:23932902 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 357_357 1793.0 1942.0 not_retained Sequence conflict Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1402_1402 1793.0 1942.0 not_retained Sequence conflict Note=R->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 1453_1453 1793.0 1942.0 not_retained Sequence conflict Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2115_2115 1793.0 1942.0 retained Sequence conflict Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2115_2115 1793.0 1942.0 retained Sequence conflict Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 225_234 1793.0 1942.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4N7Z Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 237_240 1793.0 1942.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4N7Z Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2268_2270 1793.0 1942.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2272_2276 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2278_2280 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2290_2298 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2300_2302 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2304_2313 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2315_2317 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2319_2322 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2332_2336 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2339_2342 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2347_2354 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2357_2372 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - CEP192 chr18:13114128 ENST00000325971 Q8TEP8 38 43 2380_2390 1793.0 1942.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6FVI Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 1_1 53.0 338.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22814378;Dbxref=PMID:19413330,PMID:22814378 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_785 53.0 338.0 not_retained Chain ID=PRO_0000213504;Note=Conserved oligomeric Golgi complex subunit 4 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_84 53.0 338.0 not_retained Region Note=Interaction with SCFD1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19536132;Dbxref=PMID:19536132 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 85_153 53.0 338.0 retained Region Note=Interaction with STX5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19536132;Dbxref=PMID:19536132 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 618_740 53.0 338.0 retained Region Note=D domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 741_785 53.0 338.0 retained Region Note=E domain%3B essential for proper cell surface glycosylation;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_2 53.0 338.0 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22814378;Dbxref=PMID:19413330,PMID:22814378 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 6_6 53.0 338.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 1_73 53.0 338.0 not_retained Alternative sequence ID=VSP_037551;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 331_337 53.0 338.0 retained Alternative sequence ID=VSP_001127;Note=In isoform 2. FRHVQNN->NFVFSFF;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 338_785 53.0 338.0 retained Alternative sequence ID=VSP_001128;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 158_158 53.0 338.0 retained Natural variant ID=VAR_058009;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.1;Dbxref=dbSNP:rs3931036,PMID:14702039,PMID:15489334 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 512_512 53.0 338.0 retained Natural variant ID=VAR_081564;Note=In SWILS%3B delayed anterograde vesicular trafficking from the ER to the Golgi and accelerated retrograde vesicular recycling from the Golgi to the ER%2C leading to a decrease in Golgi volume%2C as well as morphologic abnormalities with collapse of the Golgi stacks in affected fibroblasts%3B altered decorin/DCN Golgi-dependent glycosylation%3B no effect on protein expression. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30290151;Dbxref=dbSNP:rs1555575860,PMID:30290151 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 729_729 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 729_729 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 764_764 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 177_177 53.0 338.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 234_234 53.0 338.0 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 285_285 53.0 338.0 retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 486_486 53.0 338.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 588_588 53.0 338.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 588_588 53.0 338.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 644_644 53.0 338.0 retained Sequence conflict Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 537_572 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 573_575 53.0 338.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 580_615 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 617_625 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 626_629 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 636_644 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 649_666 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 669_691 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 698_716 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 723_726 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 728_737 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 742_747 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 750_753 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 762_769 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316522 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 777_782 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 1_1 53.0 338.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22814378;Dbxref=PMID:19413330,PMID:22814378 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_785 53.0 338.0 not_retained Chain ID=PRO_0000213504;Note=Conserved oligomeric Golgi complex subunit 4 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_84 53.0 338.0 not_retained Region Note=Interaction with SCFD1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19536132;Dbxref=PMID:19536132 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 85_153 53.0 338.0 retained Region Note=Interaction with STX5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19536132;Dbxref=PMID:19536132 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 618_740 53.0 338.0 retained Region Note=D domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 741_785 53.0 338.0 retained Region Note=E domain%3B essential for proper cell surface glycosylation;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 2_2 53.0 338.0 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22814378;Dbxref=PMID:19413330,PMID:22814378 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 6_6 53.0 338.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 1_73 53.0 338.0 not_retained Alternative sequence ID=VSP_037551;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 331_337 53.0 338.0 retained Alternative sequence ID=VSP_001127;Note=In isoform 2. FRHVQNN->NFVFSFF;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 338_785 53.0 338.0 retained Alternative sequence ID=VSP_001128;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 158_158 53.0 338.0 retained Natural variant ID=VAR_058009;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.1;Dbxref=dbSNP:rs3931036,PMID:14702039,PMID:15489334 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 512_512 53.0 338.0 retained Natural variant ID=VAR_081564;Note=In SWILS%3B delayed anterograde vesicular trafficking from the ER to the Golgi and accelerated retrograde vesicular recycling from the Golgi to the ER%2C leading to a decrease in Golgi volume%2C as well as morphologic abnormalities with collapse of the Golgi stacks in affected fibroblasts%3B altered decorin/DCN Golgi-dependent glycosylation%3B no effect on protein expression. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30290151;Dbxref=dbSNP:rs1555575860,PMID:30290151 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 729_729 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 729_729 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 764_764 53.0 338.0 retained Mutagenesis Note=Severe defects in glycosylation. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651599;Dbxref=PMID:19651599 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 177_177 53.0 338.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 234_234 53.0 338.0 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 285_285 53.0 338.0 retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 486_486 53.0 338.0 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 588_588 53.0 338.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 588_588 53.0 338.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 644_644 53.0 338.0 retained Sequence conflict Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 537_572 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 573_575 53.0 338.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 580_615 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 617_625 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 626_629 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 636_644 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 649_666 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 669_691 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 698_716 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 723_726 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 728_737 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 742_747 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 750_753 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 762_769 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARS chr16:70316523 - COG4 chr16:70553634 ENST00000393612 Q9H9E3 0 8 777_782 53.0 338.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3HR0 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 1_436 14.0 411.6666666666667 not_retained Chain ID=PRO_0000119870;Note=F-box/LRR-repeat protein 20 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 22_68 14.0 411.6666666666667 retained Domain Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 74_100 14.0 411.6666666666667 retained Repeat Note=LRR 1 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 101_126 14.0 411.6666666666667 retained Repeat Note=LRR 2 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 127_152 14.0 411.6666666666667 retained Repeat Note=LRR 3 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 153_178 14.0 411.6666666666667 retained Repeat Note=LRR 4 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 179_204 14.0 411.6666666666667 retained Repeat Note=LRR 5 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 205_230 14.0 411.6666666666667 retained Repeat Note=LRR 6 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 231_256 14.0 411.6666666666667 retained Repeat Note=LRR 7 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 257_282 14.0 411.6666666666667 retained Repeat Note=LRR 8 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 283_308 14.0 411.6666666666667 retained Repeat Note=LRR 9 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 309_334 14.0 411.6666666666667 retained Repeat Note=LRR 10 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 335_363 14.0 411.6666666666667 retained Repeat Note=LRR 11 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 364_388 14.0 411.6666666666667 retained Repeat Note=LRR 12 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 389_414 14.0 411.6666666666667 retained Repeat Note=LRR 13 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 417_417 14.0 411.6666666666667 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:18088087,PMID:18669648,PMID:23186163,PMID:24275569 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 421_421 14.0 411.6666666666667 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 134_165 14.0 411.6666666666667 retained Alternative sequence ID=VSP_030769;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 17_17 14.0 411.6666666666667 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000583610 Q96IG2 0 16 375_375 14.0 411.6666666666667 retained Sequence conflict Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 1_436 14.0 405.0 not_retained Chain ID=PRO_0000119870;Note=F-box/LRR-repeat protein 20 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 22_68 14.0 405.0 retained Domain Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 74_100 14.0 405.0 retained Repeat Note=LRR 1 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 101_126 14.0 405.0 retained Repeat Note=LRR 2 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 127_152 14.0 405.0 retained Repeat Note=LRR 3 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 153_178 14.0 405.0 retained Repeat Note=LRR 4 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 179_204 14.0 405.0 retained Repeat Note=LRR 5 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 205_230 14.0 405.0 retained Repeat Note=LRR 6 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 231_256 14.0 405.0 retained Repeat Note=LRR 7 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 257_282 14.0 405.0 retained Repeat Note=LRR 8 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 283_308 14.0 405.0 retained Repeat Note=LRR 9 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 309_334 14.0 405.0 retained Repeat Note=LRR 10 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 335_363 14.0 405.0 retained Repeat Note=LRR 11 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 364_388 14.0 405.0 retained Repeat Note=LRR 12 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 389_414 14.0 405.0 retained Repeat Note=LRR 13 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 417_417 14.0 405.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:18088087,PMID:18669648,PMID:23186163,PMID:24275569 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 421_421 14.0 405.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 134_165 14.0 405.0 retained Alternative sequence ID=VSP_030769;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 17_17 14.0 405.0 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000394294 Q96IG2 0 14 375_375 14.0 405.0 retained Sequence conflict Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 1_436 14.0 437.0 not_retained Chain ID=PRO_0000119870;Note=F-box/LRR-repeat protein 20 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 22_68 14.0 437.0 retained Domain Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 74_100 14.0 437.0 retained Repeat Note=LRR 1 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 101_126 14.0 437.0 retained Repeat Note=LRR 2 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 127_152 14.0 437.0 retained Repeat Note=LRR 3 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 153_178 14.0 437.0 retained Repeat Note=LRR 4 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 179_204 14.0 437.0 retained Repeat Note=LRR 5 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 205_230 14.0 437.0 retained Repeat Note=LRR 6 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 231_256 14.0 437.0 retained Repeat Note=LRR 7 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 257_282 14.0 437.0 retained Repeat Note=LRR 8 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 283_308 14.0 437.0 retained Repeat Note=LRR 9 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 309_334 14.0 437.0 retained Repeat Note=LRR 10 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 335_363 14.0 437.0 retained Repeat Note=LRR 11 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 364_388 14.0 437.0 retained Repeat Note=LRR 12 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 389_414 14.0 437.0 retained Repeat Note=LRR 13 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 417_417 14.0 437.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18088087,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:18088087,PMID:18669648,PMID:23186163,PMID:24275569 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 421_421 14.0 437.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 134_165 14.0 437.0 retained Alternative sequence ID=VSP_030769;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 17_17 14.0 437.0 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41108221 - FBXL20 chr17:37499494 ENST00000264658 Q96IG2 0 15 375_375 14.0 437.0 retained Sequence conflict Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 1_24 3.3333333333333335 379.0 retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 25_378 3.3333333333333335 379.0 retained Chain ID=PRO_0000012735;Note=C-C chemokine receptor type 7 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 25_59 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 60_86 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 87_95 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 96_116 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 117_130 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 131_152 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 153_170 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 171_191 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 192_219 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 220_247 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 248_263 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 264_289 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 290_313 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 314_331 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 332_378 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 36_36 3.3333333333333335 379.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 129_210 3.3333333333333335 379.0 retained Disulfide bond Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00521 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 7_7 3.3333333333333335 379.0 retained Natural variant ID=VAR_049383;Note=M->V;Dbxref=dbSNP:rs2228015 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 182_183 3.3333333333333335 379.0 retained Sequence conflict Note=IW->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 337_337 3.3333333333333335 379.0 retained Sequence conflict Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 56_84 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 85_89 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 92_108 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 111_119 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 125_157 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 168_171 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 173_190 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 191_195 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 196_200 3.3333333333333335 379.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 209_212 3.3333333333333335 379.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 221_231 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113208 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 233_247 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 1_24 3.3333333333333335 379.0 retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 25_378 3.3333333333333335 379.0 retained Chain ID=PRO_0000012735;Note=C-C chemokine receptor type 7 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 25_59 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 60_86 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 87_95 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 96_116 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 117_130 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 131_152 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 153_170 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 171_191 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 192_219 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 220_247 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 248_263 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 264_289 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 290_313 3.3333333333333335 379.0 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 314_331 3.3333333333333335 379.0 retained Transmembrane Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 332_378 3.3333333333333335 379.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 36_36 3.3333333333333335 379.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 129_210 3.3333333333333335 379.0 retained Disulfide bond Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00521 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 7_7 3.3333333333333335 379.0 retained Natural variant ID=VAR_049383;Note=M->V;Dbxref=dbSNP:rs2228015 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 182_183 3.3333333333333335 379.0 retained Sequence conflict Note=IW->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 337_337 3.3333333333333335 379.0 retained Sequence conflict Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 56_84 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 85_89 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 92_108 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 111_119 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 125_157 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 168_171 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 173_190 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 191_195 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 196_200 3.3333333333333335 379.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 209_212 3.3333333333333335 379.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 221_231 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AARSD1 chr17:41113209 - CCR7 chr17:38715194 ENST00000246657 P32248 0 3 233_247 3.3333333333333335 379.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QZH Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 1_880 222.0 881.0 not_retained Chain ID=PRO_0000329433;Note=Leucine-rich repeat-containing protein 66 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 4_24 222.0 881.0 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 376_396 222.0 881.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 86_107 222.0 881.0 not_retained Repeat Note=LRR 1 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 110_130 222.0 881.0 not_retained Repeat Note=LRR 2 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 149_171 222.0 881.0 not_retained Repeat Note=LRR 3 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 172_193 222.0 881.0 not_retained Repeat Note=LRR 4 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 196_217 222.0 881.0 not_retained Repeat Note=LRR 5 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 220_241 222.0 881.0 retained Repeat Note=LRR 6 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 723_723 222.0 881.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6TXF5 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 752_752 222.0 881.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K0B3 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 45_45 222.0 881.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 115_115 222.0 881.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 746_746 222.0 881.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 756_756 222.0 881.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217507 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 342_342 222.0 881.0 retained Natural variant ID=VAR_051124;Note=G->A;Dbxref=dbSNP:rs17081784 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 1_880 222.0 881.0 not_retained Chain ID=PRO_0000329433;Note=Leucine-rich repeat-containing protein 66 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 4_24 222.0 881.0 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 376_396 222.0 881.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 86_107 222.0 881.0 not_retained Repeat Note=LRR 1 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 110_130 222.0 881.0 not_retained Repeat Note=LRR 2 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 149_171 222.0 881.0 not_retained Repeat Note=LRR 3 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 172_193 222.0 881.0 not_retained Repeat Note=LRR 4 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 196_217 222.0 881.0 not_retained Repeat Note=LRR 5 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 220_241 222.0 881.0 retained Repeat Note=LRR 6 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 723_723 222.0 881.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6TXF5 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 752_752 222.0 881.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K0B3 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 45_45 222.0 881.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 115_115 222.0 881.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 746_746 222.0 881.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 756_756 222.0 881.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52864103 ENST00000343457 Q68CR7 1 4 342_342 222.0 881.0 retained Natural variant ID=VAR_051124;Note=G->A;Dbxref=dbSNP:rs17081784 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 1_880 165.33333333333334 881.0 not_retained Chain ID=PRO_0000329433;Note=Leucine-rich repeat-containing protein 66 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 4_24 165.33333333333334 881.0 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 376_396 165.33333333333334 881.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 86_107 165.33333333333334 881.0 not_retained Repeat Note=LRR 1 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 110_130 165.33333333333334 881.0 not_retained Repeat Note=LRR 2 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 149_171 165.33333333333334 881.0 not_retained Repeat Note=LRR 3 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 172_193 165.33333333333334 881.0 retained Repeat Note=LRR 4 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 196_217 165.33333333333334 881.0 retained Repeat Note=LRR 5 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 220_241 165.33333333333334 881.0 retained Repeat Note=LRR 6 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 723_723 165.33333333333334 881.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6TXF5 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 752_752 165.33333333333334 881.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K0B3 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 45_45 165.33333333333334 881.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 115_115 165.33333333333334 881.0 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 746_746 165.33333333333334 881.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 756_756 165.33333333333334 881.0 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57217508 - LRRC66 chr4:52869558 ENST00000343457 Q68CR7 0 4 342_342 165.33333333333334 881.0 retained Natural variant ID=VAR_051124;Note=G->A;Dbxref=dbSNP:rs17081784 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1_1620 1004.6666666666666 1621.0 not_retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1025_1203 1004.6666666666666 1621.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 439_493 1004.6666666666666 1621.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 532_582 1004.6666666666666 1621.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 221_229 1004.6666666666666 1621.0 not_retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 591_596 1004.6666666666666 1621.0 not_retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1491_1494 1004.6666666666666 1621.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1_49 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 42_122 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 83_111 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 112_1620 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 123_1620 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1199_1257 1004.6666666666666 1621.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 117_117 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 376_376 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 507_507 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 559_559 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 660_660 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 684_684 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 701_701 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 721_721 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 800_800 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1045_1045 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1096_1096 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1114_1114 1004.6666666666666 1621.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1116_1116 1004.6666666666666 1621.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1122_1122 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1126_1126 1004.6666666666666 1621.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1151_1151 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1182_1182 1004.6666666666666 1621.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1284_1284 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1284_1284 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1330_1330 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1430_1430 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1447_1447 1004.6666666666666 1621.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1517_1517 1004.6666666666666 1621.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1520_1520 1004.6666666666666 1621.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1528_1528 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1551_1551 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1556_1556 1004.6666666666666 1621.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 1568_1568 1004.6666666666666 1621.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000424120 Q9P2K1 22 37 524_524 1004.6666666666666 1621.0 not_retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1_1620 1004.6666666666666 1621.0 not_retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1025_1203 1004.6666666666666 1621.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 439_493 1004.6666666666666 1621.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 532_582 1004.6666666666666 1621.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 221_229 1004.6666666666666 1621.0 not_retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 591_596 1004.6666666666666 1621.0 not_retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1491_1494 1004.6666666666666 1621.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1_49 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 42_122 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 83_111 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 112_1620 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 123_1620 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1199_1257 1004.6666666666666 1621.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 117_117 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 376_376 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 507_507 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 559_559 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 660_660 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 684_684 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 701_701 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 721_721 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 800_800 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1045_1045 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1096_1096 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1114_1114 1004.6666666666666 1621.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1116_1116 1004.6666666666666 1621.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1122_1122 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1126_1126 1004.6666666666666 1621.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1151_1151 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1182_1182 1004.6666666666666 1621.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1284_1284 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1284_1284 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1330_1330 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1430_1430 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1447_1447 1004.6666666666666 1621.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1517_1517 1004.6666666666666 1621.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1520_1520 1004.6666666666666 1621.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1528_1528 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1551_1551 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1556_1556 1004.6666666666666 1621.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 1568_1568 1004.6666666666666 1621.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000413206 Q9P2K1 22 37 524_524 1004.6666666666666 1621.0 not_retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1_1620 1004.6666666666666 1621.0 not_retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1025_1203 1004.6666666666666 1621.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 439_493 1004.6666666666666 1621.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 532_582 1004.6666666666666 1621.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 221_229 1004.6666666666666 1621.0 not_retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 591_596 1004.6666666666666 1621.0 not_retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1491_1494 1004.6666666666666 1621.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1_49 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 42_122 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 83_111 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 112_1620 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 123_1620 1004.6666666666666 1621.0 not_retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1199_1257 1004.6666666666666 1621.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 117_117 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 376_376 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 507_507 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 559_559 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 660_660 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 684_684 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 701_701 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 721_721 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 800_800 1004.6666666666666 1621.0 not_retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1045_1045 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1096_1096 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1114_1114 1004.6666666666666 1621.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1116_1116 1004.6666666666666 1621.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1122_1122 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1126_1126 1004.6666666666666 1621.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1151_1151 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1182_1182 1004.6666666666666 1621.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1284_1284 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1284_1284 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1330_1330 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1430_1430 1004.6666666666666 1621.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1447_1447 1004.6666666666666 1621.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1517_1517 1004.6666666666666 1621.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1520_1520 1004.6666666666666 1621.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1528_1528 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1551_1551 1004.6666666666666 1621.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1556_1556 1004.6666666666666 1621.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 1568_1568 1004.6666666666666 1621.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503292 Q9P2K1 23 38 524_524 1004.6666666666666 1621.0 not_retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1_1620 955.6666666666666 1513.0 not_retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1025_1203 955.6666666666666 1513.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 439_493 955.6666666666666 1513.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 532_582 955.6666666666666 1513.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 221_229 955.6666666666666 1513.0 not_retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 591_596 955.6666666666666 1513.0 not_retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1491_1494 955.6666666666666 1513.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1_49 955.6666666666666 1513.0 not_retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 42_122 955.6666666666666 1513.0 not_retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 83_111 955.6666666666666 1513.0 not_retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 112_1620 955.6666666666666 1513.0 not_retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 123_1620 955.6666666666666 1513.0 not_retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1199_1257 955.6666666666666 1513.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 117_117 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 376_376 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 507_507 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 559_559 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 660_660 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 684_684 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 701_701 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 721_721 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 800_800 955.6666666666666 1513.0 not_retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1045_1045 955.6666666666666 1513.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1096_1096 955.6666666666666 1513.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1114_1114 955.6666666666666 1513.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1116_1116 955.6666666666666 1513.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1122_1122 955.6666666666666 1513.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1126_1126 955.6666666666666 1513.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1151_1151 955.6666666666666 1513.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1182_1182 955.6666666666666 1513.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1284_1284 955.6666666666666 1513.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1284_1284 955.6666666666666 1513.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1330_1330 955.6666666666666 1513.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1430_1430 955.6666666666666 1513.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1447_1447 955.6666666666666 1513.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1517_1517 955.6666666666666 1513.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1520_1520 955.6666666666666 1513.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1528_1528 955.6666666666666 1513.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1551_1551 955.6666666666666 1513.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1556_1556 955.6666666666666 1513.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 1568_1568 955.6666666666666 1513.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000389652 Q9P2K1 20 34 524_524 955.6666666666666 1513.0 not_retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1_1620 0 123.0 retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1025_1203 0 123.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 439_493 0 123.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 532_582 0 123.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 221_229 0 123.0 retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 591_596 0 123.0 retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1491_1494 0 123.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1_49 0 123.0 retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 42_122 0 123.0 retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 83_111 0 123.0 retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 112_1620 0 123.0 retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 123_1620 0 123.0 retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1199_1257 0 123.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 117_117 0 123.0 retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 376_376 0 123.0 retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 507_507 0 123.0 retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 559_559 0 123.0 retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 660_660 0 123.0 retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 684_684 0 123.0 retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 701_701 0 123.0 retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 721_721 0 123.0 retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 800_800 0 123.0 retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1045_1045 0 123.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1096_1096 0 123.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1114_1114 0 123.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1116_1116 0 123.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1122_1122 0 123.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1126_1126 0 123.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1151_1151 0 123.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1182_1182 0 123.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1284_1284 0 123.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1284_1284 0 123.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1330_1330 0 123.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1430_1430 0 123.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1447_1447 0 123.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1517_1517 0 123.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1520_1520 0 123.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1528_1528 0 123.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1551_1551 0 123.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1556_1556 0 123.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 1568_1568 0 123.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000438599 Q9P2K1 0 6 524_524 0 123.0 retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1_1620 0 123.0 retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1025_1203 0 123.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 439_493 0 123.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 532_582 0 123.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 221_229 0 123.0 retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 591_596 0 123.0 retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1491_1494 0 123.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1_49 0 123.0 retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 42_122 0 123.0 retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 83_111 0 123.0 retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 112_1620 0 123.0 retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 123_1620 0 123.0 retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1199_1257 0 123.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 117_117 0 123.0 retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 376_376 0 123.0 retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 507_507 0 123.0 retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 559_559 0 123.0 retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 660_660 0 123.0 retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 684_684 0 123.0 retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 701_701 0 123.0 retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 721_721 0 123.0 retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 800_800 0 123.0 retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1045_1045 0 123.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1096_1096 0 123.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1114_1114 0 123.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1116_1116 0 123.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1122_1122 0 123.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1126_1126 0 123.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1151_1151 0 123.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1182_1182 0 123.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1284_1284 0 123.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1284_1284 0 123.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1330_1330 0 123.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1430_1430 0 123.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1447_1447 0 123.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1517_1517 0 123.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1520_1520 0 123.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1528_1528 0 123.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1551_1551 0 123.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1556_1556 0 123.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 1568_1568 0 123.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000511544 Q9P2K1 0 6 524_524 0 123.0 retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1_1620 0 112.0 retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1025_1203 0 112.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 439_493 0 112.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 532_582 0 112.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 221_229 0 112.0 retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 591_596 0 112.0 retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1491_1494 0 112.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1_49 0 112.0 retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 42_122 0 112.0 retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 83_111 0 112.0 retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 112_1620 0 112.0 retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 123_1620 0 112.0 retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1199_1257 0 112.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 117_117 0 112.0 retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 376_376 0 112.0 retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 507_507 0 112.0 retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 559_559 0 112.0 retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 660_660 0 112.0 retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 684_684 0 112.0 retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 701_701 0 112.0 retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 721_721 0 112.0 retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 800_800 0 112.0 retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1045_1045 0 112.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1096_1096 0 112.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1114_1114 0 112.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1116_1116 0 112.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1122_1122 0 112.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1126_1126 0 112.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1151_1151 0 112.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1182_1182 0 112.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1284_1284 0 112.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1284_1284 0 112.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1330_1330 0 112.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1430_1430 0 112.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1447_1447 0 112.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1517_1517 0 112.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1520_1520 0 112.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1528_1528 0 112.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1551_1551 0 112.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1556_1556 0 112.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 1568_1568 0 112.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000507954 Q9P2K1 0 6 524_524 0 112.0 retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1_1620 0 112.0 retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1025_1203 0 112.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 439_493 0 112.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 532_582 0 112.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 221_229 0 112.0 retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 591_596 0 112.0 retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1491_1494 0 112.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1_49 0 112.0 retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 42_122 0 112.0 retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 83_111 0 112.0 retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 112_1620 0 112.0 retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 123_1620 0 112.0 retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1199_1257 0 112.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 117_117 0 112.0 retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 376_376 0 112.0 retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 507_507 0 112.0 retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 559_559 0 112.0 retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 660_660 0 112.0 retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 684_684 0 112.0 retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 701_701 0 112.0 retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 721_721 0 112.0 retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 800_800 0 112.0 retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1045_1045 0 112.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1096_1096 0 112.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1114_1114 0 112.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1116_1116 0 112.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1122_1122 0 112.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1126_1126 0 112.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1151_1151 0 112.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1182_1182 0 112.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1284_1284 0 112.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1284_1284 0 112.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1330_1330 0 112.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1430_1430 0 112.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1447_1447 0 112.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1517_1517 0 112.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1520_1520 0 112.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1528_1528 0 112.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1551_1551 0 112.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1556_1556 0 112.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 1568_1568 0 112.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000515124 Q9P2K1 0 5 524_524 0 112.0 retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1_1620 0 123.0 retained Chain ID=PRO_0000317250;Note=Coiled-coil and C2 domain-containing protein 2A Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1025_1203 0 123.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 439_493 0 123.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 532_582 0 123.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 221_229 0 123.0 retained Compositional bias Note=Poly-Glu Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 591_596 0 123.0 retained Compositional bias Note=Poly-Lys Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1491_1494 0 123.0 retained Compositional bias Note=Poly-Ala Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1_49 0 123.0 retained Alternative sequence ID=VSP_030923;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 42_122 0 123.0 retained Alternative sequence ID=VSP_045255;Note=In isoform 3. PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE->KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 83_111 0 123.0 retained Alternative sequence ID=VSP_045453;Note=In isoform 4. SLPPIPSTSRTGFAEFSMRGRMREKLQAA->RELVVKKSLGRPGTVTHVCNPSTLEGRGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 112_1620 0 123.0 retained Alternative sequence ID=VSP_045454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 123_1620 0 123.0 retained Alternative sequence ID=VSP_045256;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1199_1257 0 123.0 retained Alternative sequence ID=VSP_037223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10718198,ECO:0000303|PubMed:15489334;Dbxref=PMID:10718198,PMID:15489334 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 117_117 0 123.0 retained Natural variant ID=VAR_076881;Note=In JBTS9%3B unknown pathological significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs186264635,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 376_376 0 123.0 retained Natural variant ID=VAR_038489;Note=E->A;Dbxref=dbSNP:rs16892095 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 507_507 0 123.0 retained Natural variant ID=VAR_076882;Note=In JBTS9%3B benign variant. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs144439937,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 559_559 0 123.0 retained Natural variant ID=VAR_076883;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754221308,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 660_660 0 123.0 retained Natural variant ID=VAR_038490;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs16892134,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 684_684 0 123.0 retained Natural variant ID=VAR_076884;Note=L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs190698163,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 701_701 0 123.0 retained Natural variant ID=VAR_076885;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs537906621,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 721_721 0 123.0 retained Natural variant ID=VAR_062804;Note=In JBTS9. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs199768782,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 800_800 0 123.0 retained Natural variant ID=VAR_062805;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs751256652,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1045_1045 0 123.0 retained Natural variant ID=VAR_076886;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225173,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1096_1096 0 123.0 retained Natural variant ID=VAR_055321;Note=In JBTS9. Q->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225169,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1114_1114 0 123.0 retained Natural variant ID=VAR_062293;Note=In MKS6 and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19466712,ECO:0000269|PubMed:19777577;Dbxref=dbSNP:rs386833752,PMID:19466712,PMID:19777577 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1116_1116 0 123.0 retained Natural variant ID=VAR_063804;Note=In COACHS and JBTS9. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs267606709,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1122_1122 0 123.0 retained Natural variant ID=VAR_055322;Note=In JBTS9. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204051,PMID:18950740,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1126_1126 0 123.0 retained Natural variant ID=VAR_068169;Note=In JBTS9. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1473532901,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1151_1151 0 123.0 retained Natural variant ID=VAR_076887;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225170,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1182_1182 0 123.0 retained Natural variant ID=VAR_075698;Note=In JBTS9. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs386833755,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1284_1284 0 123.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1284_1284 0 123.0 retained Natural variant ID=VAR_076889;Note=In JBTS9. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs754586025,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1330_1330 0 123.0 retained Natural variant ID=VAR_076890;Note=In JBTS9%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs763486732,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1430_1430 0 123.0 retained Natural variant ID=VAR_076891;Note=In JBTS9. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs863225168,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1447_1447 0 123.0 retained Natural variant ID=VAR_067535;Note=In JBTS9%3B digenic inheritance%3B the patient also carries mutation C-360 in CEP41. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22246503;Dbxref=dbSNP:rs387907058,PMID:22246503 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1517_1517 0 123.0 retained Natural variant ID=VAR_077560;Note=In MKS6%3B unknown pathological significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706459;Dbxref=dbSNP:rs780673487,PMID:24706459 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1520_1520 0 123.0 retained Natural variant ID=VAR_069045;Note=In JBTS9. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs1478902342,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1528_1528 0 123.0 retained Natural variant ID=VAR_055323;Note=In JBTS9 and COACHS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18950740,ECO:0000269|PubMed:19574260,ECO:0000269|PubMed:22241855;Dbxref=dbSNP:rs118204052,PMID:18950740,PMID:19574260,PMID:22241855 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1551_1551 0 123.0 retained Natural variant ID=VAR_055324;Note=In JBTS9. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18950740;Dbxref=dbSNP:rs763425007,PMID:18950740 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1556_1556 0 123.0 retained Natural variant ID=VAR_062806;Note=In JBTS9. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19777577,ECO:0000269|PubMed:22241855,ECO:0000269|PubMed:22425360,ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs201502401,PMID:19777577,PMID:22241855,PMID:22425360,PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 1568_1568 0 123.0 retained Natural variant ID=VAR_069046;Note=In JBTS9. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23012439,ECO:0000269|PubMed:26477546;Dbxref=PMID:23012439,PMID:26477546 Tgene AASDH chr4:57244314 - CC2D2A chr4:15564978 ENST00000503658 Q9P2K1 0 7 524_524 0 123.0 retained Sequence conflict Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 1_1025 108.33333333333333 840.0 not_retained Chain ID=PRO_0000066887;Note=Ankyrin repeat and BTB/POZ domain-containing protein 2 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 521_550 108.33333333333333 840.0 retained Repeat Note=ANK 1 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 567_596 108.33333333333333 840.0 retained Repeat Note=ANK 2 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 606_635 108.33333333333333 840.0 retained Repeat Note=ANK 3 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 649_678 108.33333333333333 840.0 retained Repeat Note=ANK 4 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 845_914 108.33333333333333 840.0 retained Domain Note=BTB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 1_186 108.33333333333333 840.0 not_retained Alternative sequence ID=VSP_046439;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 250_250 108.33333333333333 840.0 retained Natural variant ID=VAR_022087;Note=H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1925368,PMID:14702039 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 918_918 108.33333333333333 840.0 retained Natural variant ID=VAR_024171;Note=T->A;Dbxref=dbSNP:rs2473928 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000298992 Q8N961 0 17 189_189 108.33333333333333 840.0 retained Sequence conflict Note=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 1_1025 294.3333333333333 1026.0 not_retained Chain ID=PRO_0000066887;Note=Ankyrin repeat and BTB/POZ domain-containing protein 2 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 521_550 294.3333333333333 1026.0 retained Repeat Note=ANK 1 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 567_596 294.3333333333333 1026.0 retained Repeat Note=ANK 2 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 606_635 294.3333333333333 1026.0 retained Repeat Note=ANK 3 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 649_678 294.3333333333333 1026.0 retained Repeat Note=ANK 4 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 845_914 294.3333333333333 1026.0 retained Domain Note=BTB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 1_186 294.3333333333333 1026.0 not_retained Alternative sequence ID=VSP_046439;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 250_250 294.3333333333333 1026.0 not_retained Natural variant ID=VAR_022087;Note=H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1925368,PMID:14702039 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 918_918 294.3333333333333 1026.0 retained Natural variant ID=VAR_024171;Note=T->A;Dbxref=dbSNP:rs2473928 Tgene AASDHPPT chr11:105950419 + ABTB2 chr11:34226237 ENST00000435224 Q8N961 0 17 189_189 294.3333333333333 1026.0 not_retained Sequence conflict Note=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 1_197 2.3333333333333335 198.0 retained Chain ID=PRO_0000349180;Note=Caspase recruitment domain-containing protein 16 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 1_91 2.3333333333333335 198.0 retained Domain Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 92_197 2.3333333333333335 198.0 retained Alternative sequence ID=VSP_035216;Note=In isoform 2. ALQAVQDNPAMPTCSSPEGRIKLCFLEDAQRIWKQKLQRCHVQNTIIKWSERYTSGSFEMQWLFLRTNFIERFWRNILLLPLHKGSLYPRIPGLGKELQTGTHKLS->GPIPGN;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11536016,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11536016,PMID:14702039,PMID:15489334 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 33_33 2.3333333333333335 198.0 retained Natural variant ID=VAR_046279;Note=R->S;Dbxref=dbSNP:rs35966314 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 37_37 2.3333333333333335 198.0 retained Natural variant ID=VAR_046280;Note=Q->K;Dbxref=dbSNP:rs1042744 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 56_56 2.3333333333333335 198.0 retained Natural variant ID=VAR_046281;Note=A->D;Dbxref=dbSNP:rs34534919 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375706 Q5EG05 0 3 167_167 2.3333333333333335 198.0 retained Natural variant ID=VAR_046282;Note=N->I;Dbxref=dbSNP:rs542571 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 1_197 2.3333333333333335 67.0 retained Chain ID=PRO_0000349180;Note=Caspase recruitment domain-containing protein 16 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 1_91 2.3333333333333335 67.0 retained Domain Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 92_197 2.3333333333333335 67.0 retained Alternative sequence ID=VSP_035216;Note=In isoform 2. ALQAVQDNPAMPTCSSPEGRIKLCFLEDAQRIWKQKLQRCHVQNTIIKWSERYTSGSFEMQWLFLRTNFIERFWRNILLLPLHKGSLYPRIPGLGKELQTGTHKLS->GPIPGN;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11536016,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11536016,PMID:14702039,PMID:15489334 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 33_33 2.3333333333333335 67.0 retained Natural variant ID=VAR_046279;Note=R->S;Dbxref=dbSNP:rs35966314 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 37_37 2.3333333333333335 67.0 retained Natural variant ID=VAR_046280;Note=Q->K;Dbxref=dbSNP:rs1042744 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 56_56 2.3333333333333335 67.0 retained Natural variant ID=VAR_046281;Note=A->D;Dbxref=dbSNP:rs34534919 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000375704 Q5EG05 0 4 167_167 2.3333333333333335 67.0 retained Natural variant ID=VAR_046282;Note=N->I;Dbxref=dbSNP:rs542571 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 1_197 2.3333333333333335 71.66666666666667 retained Chain ID=PRO_0000349180;Note=Caspase recruitment domain-containing protein 16 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 1_91 2.3333333333333335 71.66666666666667 retained Domain Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 92_197 2.3333333333333335 71.66666666666667 retained Alternative sequence ID=VSP_035216;Note=In isoform 2. ALQAVQDNPAMPTCSSPEGRIKLCFLEDAQRIWKQKLQRCHVQNTIIKWSERYTSGSFEMQWLFLRTNFIERFWRNILLLPLHKGSLYPRIPGLGKELQTGTHKLS->GPIPGN;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11536016,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11536016,PMID:14702039,PMID:15489334 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 33_33 2.3333333333333335 71.66666666666667 retained Natural variant ID=VAR_046279;Note=R->S;Dbxref=dbSNP:rs35966314 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 37_37 2.3333333333333335 71.66666666666667 retained Natural variant ID=VAR_046280;Note=Q->K;Dbxref=dbSNP:rs1042744 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 56_56 2.3333333333333335 71.66666666666667 retained Natural variant ID=VAR_046281;Note=A->D;Dbxref=dbSNP:rs34534919 Tgene AASDHPPT chr11:105950419 + CARD16 chr11:104915385 ENST00000525374 Q5EG05 0 4 167_167 2.3333333333333335 71.66666666666667 retained Natural variant ID=VAR_046282;Note=N->I;Dbxref=dbSNP:rs542571 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 1_1296 113.0 1256.0 not_retained Chain ID=PRO_0000053868;Note=Calcium-dependent secretion activator 2 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 350_464 113.0 1256.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 487_590 113.0 1256.0 retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 885_1056 113.0 1256.0 retained Domain Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 755_1074 113.0 1256.0 retained Region Note=Interaction with DRD2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15857609;Dbxref=PMID:15857609 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 56_56 113.0 1256.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 58_58 113.0 1256.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 1290_1290 113.0 1256.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BYR5 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 618_621 113.0 1256.0 retained Alternative sequence ID=VSP_016815;Note=In isoform 2 and isoform 3. SGKD->Y;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 860_862 113.0 1256.0 retained Alternative sequence ID=VSP_016816;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 963_1003 113.0 1256.0 retained Alternative sequence ID=VSP_016817;Note=In isoform 2 and isoform 3. KNIANSLPNVALPKVPSLPLNLPQIPNISTASWMPSLYEST->N;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 1104_1104 113.0 1256.0 retained Alternative sequence ID=VSP_016818;Note=In isoform 2. E->EFGSQW;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 298_298 113.0 1256.0 retained Natural variant ID=VAR_024786;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12659812;Dbxref=dbSNP:rs17144625,PMID:12659812 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 44_47 113.0 1256.0 not_retained Sequence conflict Note=APGR->GRG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 90_90 113.0 1256.0 not_retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 360_360 113.0 1256.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 457_457 113.0 1256.0 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 488_488 113.0 1256.0 retained Sequence conflict Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 579_579 113.0 1256.0 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000412584 Q86UW7 0 28 1068_1068 113.0 1256.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 1_1296 113.0 1297.0 not_retained Chain ID=PRO_0000053868;Note=Calcium-dependent secretion activator 2 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 350_464 113.0 1297.0 retained Domain Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 487_590 113.0 1297.0 retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 885_1056 113.0 1297.0 retained Domain Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 755_1074 113.0 1297.0 retained Region Note=Interaction with DRD2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15857609;Dbxref=PMID:15857609 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 56_56 113.0 1297.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 58_58 113.0 1297.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:21406692;Dbxref=PMID:21406692 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 1290_1290 113.0 1297.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BYR5 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 618_621 113.0 1297.0 retained Alternative sequence ID=VSP_016815;Note=In isoform 2 and isoform 3. SGKD->Y;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 860_862 113.0 1297.0 retained Alternative sequence ID=VSP_016816;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 963_1003 113.0 1297.0 retained Alternative sequence ID=VSP_016817;Note=In isoform 2 and isoform 3. KNIANSLPNVALPKVPSLPLNLPQIPNISTASWMPSLYEST->N;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 1104_1104 113.0 1297.0 retained Alternative sequence ID=VSP_016818;Note=In isoform 2. E->EFGSQW;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:12659812,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10997877,PMID:12659812,PMID:14702039,PMID:15489334,PMID:17974005 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 298_298 113.0 1297.0 retained Natural variant ID=VAR_024786;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12659812;Dbxref=dbSNP:rs17144625,PMID:12659812 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 44_47 113.0 1297.0 not_retained Sequence conflict Note=APGR->GRG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 90_90 113.0 1297.0 not_retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 360_360 113.0 1297.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 457_457 113.0 1297.0 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 488_488 113.0 1297.0 retained Sequence conflict Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 579_579 113.0 1297.0 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121726066 - CADPS2 chr7:122377122 ENST00000449022 Q86UW7 0 30 1068_1068 113.0 1297.0 retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 1_869 515.0 864.0 not_retained Chain ID=PRO_0000206573;Note=Dynamin-3 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 28_294 515.0 864.0 not_retained Domain Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 515_621 515.0 864.0 retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 659_750 515.0 864.0 retained Domain Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00720 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 38_46 515.0 864.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 205_211 515.0 864.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 236_239 515.0 864.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 38_45 515.0 864.0 not_retained Region Note=G1 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 64_66 515.0 864.0 not_retained Region Note=G2 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 136_139 515.0 864.0 not_retained Region Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 205_208 515.0 864.0 not_retained Region Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 235_238 515.0 864.0 not_retained Region Note=G5 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 231_231 515.0 864.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 299_299 515.0 864.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39054 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 603_603 515.0 864.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 604_604 515.0 864.0 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P50570 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 769_769 515.0 864.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 773_773 515.0 864.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 853_853 515.0 864.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 516_525 515.0 864.0 retained Alternative sequence ID=VSP_034053;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10048485,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10048485,PMID:11230166,PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 564_565 515.0 864.0 retained Alternative sequence ID=VSP_054546;Note=In isoform 5. EK->NI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 566_869 515.0 864.0 retained Alternative sequence ID=VSP_054547;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 637_637 515.0 864.0 retained Alternative sequence ID=VSP_034054;Note=In isoform 3 and isoform 4. V->VGNNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 323_323 515.0 864.0 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 412_412 515.0 864.0 not_retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 844_844 515.0 864.0 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 34_37 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 44_52 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 69_75 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 80_86 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 94_105 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 120_126 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 131_136 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 152_164 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 170_176 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 181_183 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 185_193 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 200_205 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 207_209 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 217_220 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 231_233 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 239_243 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 248_261 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 263_265 515.0 864.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 266_271 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000358155 Q9UQ16 12 21 274_285 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 1_869 525.0 870.0 not_retained Chain ID=PRO_0000206573;Note=Dynamin-3 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 28_294 525.0 870.0 not_retained Domain Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 515_621 525.0 870.0 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 659_750 525.0 870.0 retained Domain Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00720 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 38_46 525.0 870.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 205_211 525.0 870.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 236_239 525.0 870.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 38_45 525.0 870.0 not_retained Region Note=G1 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 64_66 525.0 870.0 not_retained Region Note=G2 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 136_139 525.0 870.0 not_retained Region Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 205_208 525.0 870.0 not_retained Region Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 235_238 525.0 870.0 not_retained Region Note=G5 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 231_231 525.0 870.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 299_299 525.0 870.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39054 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 603_603 525.0 870.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 604_604 525.0 870.0 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P50570 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 769_769 525.0 870.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 773_773 525.0 870.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 853_853 525.0 870.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 516_525 525.0 870.0 not_retained Alternative sequence ID=VSP_034053;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10048485,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10048485,PMID:11230166,PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 564_565 525.0 870.0 retained Alternative sequence ID=VSP_054546;Note=In isoform 5. EK->NI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 566_869 525.0 870.0 retained Alternative sequence ID=VSP_054547;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 637_637 525.0 870.0 retained Alternative sequence ID=VSP_034054;Note=In isoform 3 and isoform 4. V->VGNNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 323_323 525.0 870.0 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 412_412 525.0 870.0 not_retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 844_844 525.0 870.0 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 34_37 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 44_52 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 69_75 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 80_86 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 94_105 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 120_126 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 131_136 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 152_164 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 170_176 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 181_183 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 185_193 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 200_205 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 207_209 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 217_220 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 231_233 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 239_243 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 248_261 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 263_265 525.0 870.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 266_271 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000355305 Q9UQ16 13 21 274_285 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 1_869 515.0 860.0 not_retained Chain ID=PRO_0000206573;Note=Dynamin-3 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 28_294 515.0 860.0 not_retained Domain Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 515_621 515.0 860.0 retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 659_750 515.0 860.0 retained Domain Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00720 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 38_46 515.0 860.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 205_211 515.0 860.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 236_239 515.0 860.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 38_45 515.0 860.0 not_retained Region Note=G1 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 64_66 515.0 860.0 not_retained Region Note=G2 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 136_139 515.0 860.0 not_retained Region Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 205_208 515.0 860.0 not_retained Region Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 235_238 515.0 860.0 not_retained Region Note=G5 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 231_231 515.0 860.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 299_299 515.0 860.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39054 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 603_603 515.0 860.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 604_604 515.0 860.0 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P50570 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 769_769 515.0 860.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 773_773 515.0 860.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 853_853 515.0 860.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 516_525 515.0 860.0 retained Alternative sequence ID=VSP_034053;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10048485,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10048485,PMID:11230166,PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 564_565 515.0 860.0 retained Alternative sequence ID=VSP_054546;Note=In isoform 5. EK->NI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 566_869 515.0 860.0 retained Alternative sequence ID=VSP_054547;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 637_637 515.0 860.0 retained Alternative sequence ID=VSP_034054;Note=In isoform 3 and isoform 4. V->VGNNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 323_323 515.0 860.0 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 412_412 515.0 860.0 not_retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 844_844 515.0 860.0 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 34_37 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 44_52 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 69_75 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 80_86 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 94_105 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 120_126 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 131_136 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 152_164 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 170_176 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 181_183 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 185_193 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 200_205 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 207_209 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 217_220 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 231_233 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 239_243 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 248_261 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 263_265 515.0 860.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 266_271 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731756 - DNM3 chr1:172100314 ENST00000367731 Q9UQ16 12 20 274_285 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 1_869 515.0 864.0 not_retained Chain ID=PRO_0000206573;Note=Dynamin-3 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 28_294 515.0 864.0 not_retained Domain Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 515_621 515.0 864.0 retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 659_750 515.0 864.0 retained Domain Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00720 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 38_46 515.0 864.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 205_211 515.0 864.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 236_239 515.0 864.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 38_45 515.0 864.0 not_retained Region Note=G1 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 64_66 515.0 864.0 not_retained Region Note=G2 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 136_139 515.0 864.0 not_retained Region Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 205_208 515.0 864.0 not_retained Region Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 235_238 515.0 864.0 not_retained Region Note=G5 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 231_231 515.0 864.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 299_299 515.0 864.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39054 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 603_603 515.0 864.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 604_604 515.0 864.0 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P50570 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 769_769 515.0 864.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 773_773 515.0 864.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 853_853 515.0 864.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 516_525 515.0 864.0 retained Alternative sequence ID=VSP_034053;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10048485,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10048485,PMID:11230166,PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 564_565 515.0 864.0 retained Alternative sequence ID=VSP_054546;Note=In isoform 5. EK->NI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 566_869 515.0 864.0 retained Alternative sequence ID=VSP_054547;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 637_637 515.0 864.0 retained Alternative sequence ID=VSP_034054;Note=In isoform 3 and isoform 4. V->VGNNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 323_323 515.0 864.0 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 412_412 515.0 864.0 not_retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 844_844 515.0 864.0 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 34_37 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 44_52 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 69_75 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 80_86 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 94_105 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 120_126 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 131_136 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 152_164 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 170_176 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 181_183 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 185_193 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 200_205 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 207_209 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 217_220 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 231_233 515.0 864.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 239_243 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 248_261 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 263_265 515.0 864.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 266_271 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000358155 Q9UQ16 12 21 274_285 515.0 864.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 1_869 525.0 870.0 not_retained Chain ID=PRO_0000206573;Note=Dynamin-3 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 28_294 525.0 870.0 not_retained Domain Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 515_621 525.0 870.0 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 659_750 525.0 870.0 retained Domain Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00720 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 38_46 525.0 870.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 205_211 525.0 870.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 236_239 525.0 870.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 38_45 525.0 870.0 not_retained Region Note=G1 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 64_66 525.0 870.0 not_retained Region Note=G2 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 136_139 525.0 870.0 not_retained Region Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 205_208 525.0 870.0 not_retained Region Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 235_238 525.0 870.0 not_retained Region Note=G5 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 231_231 525.0 870.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 299_299 525.0 870.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39054 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 603_603 525.0 870.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 604_604 525.0 870.0 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P50570 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 769_769 525.0 870.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 773_773 525.0 870.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 853_853 525.0 870.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 516_525 525.0 870.0 not_retained Alternative sequence ID=VSP_034053;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10048485,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10048485,PMID:11230166,PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 564_565 525.0 870.0 retained Alternative sequence ID=VSP_054546;Note=In isoform 5. EK->NI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 566_869 525.0 870.0 retained Alternative sequence ID=VSP_054547;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 637_637 525.0 870.0 retained Alternative sequence ID=VSP_034054;Note=In isoform 3 and isoform 4. V->VGNNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 323_323 525.0 870.0 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 412_412 525.0 870.0 not_retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 844_844 525.0 870.0 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 34_37 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 44_52 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 69_75 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 80_86 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 94_105 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 120_126 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 131_136 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 152_164 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 170_176 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 181_183 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 185_193 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 200_205 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 207_209 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 217_220 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 231_233 525.0 870.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 239_243 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 248_261 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 263_265 525.0 870.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 266_271 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000355305 Q9UQ16 13 21 274_285 525.0 870.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 1_869 515.0 860.0 not_retained Chain ID=PRO_0000206573;Note=Dynamin-3 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 28_294 515.0 860.0 not_retained Domain Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 515_621 515.0 860.0 retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 659_750 515.0 860.0 retained Domain Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00720 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 38_46 515.0 860.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 205_211 515.0 860.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 236_239 515.0 860.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.7 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 38_45 515.0 860.0 not_retained Region Note=G1 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 64_66 515.0 860.0 not_retained Region Note=G2 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 136_139 515.0 860.0 not_retained Region Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 205_208 515.0 860.0 not_retained Region Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 235_238 515.0 860.0 not_retained Region Note=G5 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 231_231 515.0 860.0 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 299_299 515.0 860.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39054 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 603_603 515.0 860.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 604_604 515.0 860.0 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P50570 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 769_769 515.0 860.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 773_773 515.0 860.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39052 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 853_853 515.0 860.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08877 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 516_525 515.0 860.0 retained Alternative sequence ID=VSP_034053;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10048485,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10048485,PMID:11230166,PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 564_565 515.0 860.0 retained Alternative sequence ID=VSP_054546;Note=In isoform 5. EK->NI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 566_869 515.0 860.0 retained Alternative sequence ID=VSP_054547;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 637_637 515.0 860.0 retained Alternative sequence ID=VSP_034054;Note=In isoform 3 and isoform 4. V->VGNNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 323_323 515.0 860.0 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 412_412 515.0 860.0 not_retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 844_844 515.0 860.0 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 34_37 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 44_52 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 69_75 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 80_86 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 94_105 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 120_126 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 131_136 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 152_164 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 170_176 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 181_183 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 185_193 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 200_205 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 207_209 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 217_220 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 231_233 515.0 860.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 239_243 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 248_261 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 263_265 515.0 860.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 266_271 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AASS chr7:121731757 - DNM3 chr1:172100315 ENST00000367731 Q9UQ16 12 20 274_285 515.0 860.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L43 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 1_1 0 561.0 retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19413330;Dbxref=PMID:19413330 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 2_560 0 561.0 retained Chain ID=PRO_0000056616;Note=Protein AATF Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 273_315 0 561.0 retained Region Note=POLR2J binding Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 316_372 0 561.0 retained Region Note=RB1 binding Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 373_472 0 561.0 retained Region Note=RB1 and SP1 binding Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 96_195 0 561.0 retained Compositional bias Note=Glu-rich Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 2_2 0 561.0 retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19413330;Dbxref=PMID:19413330 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 61_61 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 63_63 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 150_150 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 155_155 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 203_203 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 273_273 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 316_316 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 320_320 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 321_321 0 561.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 2_3 0 561.0 retained Sequence conflict Note=AG->GR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 4_5 0 561.0 retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 139_139 0 561.0 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 262_262 0 561.0 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 272_272 0 561.0 retained Sequence conflict Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 306_306 0 561.0 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35310579 - AATF chr17:35311162 ENST00000225402 Q9NY61 0 12 402_402 0 561.0 retained Sequence conflict Note=D->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 1_1 832.3333333333334 938.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 2_937 832.3333333333334 938.0 not_retained Chain ID=PRO_0000193742;Note=AP-2 complex subunit beta Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 841_937 832.3333333333334 938.0 retained Region Note=Interaction with ARRB1 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 576_716 832.3333333333334 938.0 not_retained Compositional bias Note=Pro-rich (stalk region) Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 2_2 832.3333333333334 938.0 not_retained Modified residue Note=N-acetylthreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 4_4 832.3333333333334 938.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 265_265 832.3333333333334 938.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 737_737 832.3333333333334 938.0 not_retained Modified residue Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17456551,ECO:0000269|PubMed:18938240;Dbxref=PMID:17456551,PMID:18938240 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 928_928 832.3333333333334 938.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62944 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 1_57 832.3333333333334 938.0 not_retained Alternative sequence ID=VSP_047805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15897975;Dbxref=PMID:15897975 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 663_663 832.3333333333334 938.0 not_retained Alternative sequence ID=VSP_011490;Note=In isoform 2. L->LLGSDLGGGIGGSPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 815_815 832.3333333333334 938.0 not_retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPS15%2C AMPH and BIN1 and clathrin heavy chain. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783;Dbxref=PMID:16516836,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 841_841 832.3333333333334 938.0 retained Mutagenesis Note=Abolishes interaction with LDLRAP1 and ARRB1. Greatly reduces DENND1B-binding. W->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 842_842 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 849_849 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1%2C ARRB1 and EPN1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 851_851 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 879_879 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 879_879 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 888_888 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPN1 and clathrin. No effect on EPS15 binding. Abolishes interaction with ARRB1 and with DENND1B. Y->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:10944104,PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 902_902 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1 and ARRB1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 917_917 832.3333333333334 938.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1. SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10944104;Dbxref=PMID:10944104 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 10_12 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 13_23 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 27_41 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 42_44 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 48_50 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 51_55 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 56_58 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 59_61 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 63_79 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 81_86 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 89_92 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 93_95 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 100_110 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 116_118 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 119_122 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 125_129 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 135_150 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 157_160 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 162_169 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 174_188 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 192_195 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 200_213 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 218_226 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 232_235 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 236_243 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 245_247 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 254_265 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 267_270 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 272_276 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 277_290 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 291_293 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 296_312 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 314_319 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 321_324 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 332_344 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 348_350 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 351_361 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 367_383 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 385_387 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 388_400 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 404_420 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 423_425 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 427_433 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 434_438 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 442_452 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 456_458 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 462_470 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 473_476 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 478_494 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 496_499 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 500_511 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 517_530 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 536_542 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 552_554 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 559_564 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 565_568 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 571_574 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 578_580 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 619_621 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 624_630 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 712_715 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 717_719 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 720_722 832.3333333333334 938.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 723_732 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 735_744 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 746_748 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 754_757 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 765_768 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 781_790 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 802_808 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 813_819 832.3333333333334 938.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 822_825 832.3333333333334 938.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 834_843 832.3333333333334 938.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 846_848 832.3333333333334 938.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 850_854 832.3333333333334 938.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 861_870 832.3333333333334 938.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 874_881 832.3333333333334 938.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 884_893 832.3333333333334 938.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 898_905 832.3333333333334 938.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 910_920 832.3333333333334 938.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 921_923 832.3333333333334 938.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000262325 P63010 17 21 924_936 832.3333333333334 938.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 1_1 775.3333333333334 881.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 2_937 775.3333333333334 881.0 not_retained Chain ID=PRO_0000193742;Note=AP-2 complex subunit beta Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 841_937 775.3333333333334 881.0 retained Region Note=Interaction with ARRB1 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 576_716 775.3333333333334 881.0 not_retained Compositional bias Note=Pro-rich (stalk region) Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 2_2 775.3333333333334 881.0 not_retained Modified residue Note=N-acetylthreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 4_4 775.3333333333334 881.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 265_265 775.3333333333334 881.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 737_737 775.3333333333334 881.0 not_retained Modified residue Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17456551,ECO:0000269|PubMed:18938240;Dbxref=PMID:17456551,PMID:18938240 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 928_928 775.3333333333334 881.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62944 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 1_57 775.3333333333334 881.0 not_retained Alternative sequence ID=VSP_047805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15897975;Dbxref=PMID:15897975 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 663_663 775.3333333333334 881.0 not_retained Alternative sequence ID=VSP_011490;Note=In isoform 2. L->LLGSDLGGGIGGSPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 815_815 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPS15%2C AMPH and BIN1 and clathrin heavy chain. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783;Dbxref=PMID:16516836,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 841_841 775.3333333333334 881.0 retained Mutagenesis Note=Abolishes interaction with LDLRAP1 and ARRB1. Greatly reduces DENND1B-binding. W->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 842_842 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 849_849 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1%2C ARRB1 and EPN1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 851_851 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 879_879 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 879_879 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 888_888 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPN1 and clathrin. No effect on EPS15 binding. Abolishes interaction with ARRB1 and with DENND1B. Y->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:10944104,PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 902_902 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1 and ARRB1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 917_917 775.3333333333334 881.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1. SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10944104;Dbxref=PMID:10944104 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 10_12 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 13_23 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 27_41 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 42_44 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 48_50 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 51_55 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 56_58 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 59_61 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 63_79 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 81_86 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 89_92 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 93_95 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 100_110 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 116_118 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 119_122 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 125_129 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 135_150 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 157_160 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 162_169 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 174_188 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 192_195 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 200_213 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 218_226 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 232_235 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 236_243 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 245_247 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 254_265 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 267_270 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 272_276 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 277_290 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 291_293 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 296_312 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 314_319 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 321_324 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 332_344 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 348_350 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 351_361 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 367_383 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 385_387 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 388_400 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 404_420 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 423_425 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 427_433 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 434_438 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 442_452 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 456_458 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 462_470 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 473_476 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 478_494 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 496_499 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 500_511 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 517_530 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 536_542 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 552_554 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 559_564 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 565_568 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 571_574 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 578_580 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 619_621 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 624_630 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 712_715 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 717_719 775.3333333333334 881.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 720_722 775.3333333333334 881.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 723_732 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 735_744 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 746_748 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 754_757 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 765_768 775.3333333333334 881.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 781_790 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 802_808 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 813_819 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 822_825 775.3333333333334 881.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 834_843 775.3333333333334 881.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 846_848 775.3333333333334 881.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 850_854 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 861_870 775.3333333333334 881.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 874_881 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 884_893 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 898_905 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 910_920 775.3333333333334 881.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 921_923 775.3333333333334 881.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000538556 P63010 18 22 924_936 775.3333333333334 881.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 1_1 846.3333333333334 952.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 2_937 846.3333333333334 952.0 not_retained Chain ID=PRO_0000193742;Note=AP-2 complex subunit beta Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 841_937 846.3333333333334 952.0 not_retained Region Note=Interaction with ARRB1 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 576_716 846.3333333333334 952.0 not_retained Compositional bias Note=Pro-rich (stalk region) Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 2_2 846.3333333333334 952.0 not_retained Modified residue Note=N-acetylthreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 4_4 846.3333333333334 952.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 265_265 846.3333333333334 952.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 737_737 846.3333333333334 952.0 not_retained Modified residue Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17456551,ECO:0000269|PubMed:18938240;Dbxref=PMID:17456551,PMID:18938240 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 928_928 846.3333333333334 952.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62944 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 1_57 846.3333333333334 952.0 not_retained Alternative sequence ID=VSP_047805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15897975;Dbxref=PMID:15897975 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 663_663 846.3333333333334 952.0 not_retained Alternative sequence ID=VSP_011490;Note=In isoform 2. L->LLGSDLGGGIGGSPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 815_815 846.3333333333334 952.0 not_retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPS15%2C AMPH and BIN1 and clathrin heavy chain. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783;Dbxref=PMID:16516836,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 841_841 846.3333333333334 952.0 not_retained Mutagenesis Note=Abolishes interaction with LDLRAP1 and ARRB1. Greatly reduces DENND1B-binding. W->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 842_842 846.3333333333334 952.0 not_retained Mutagenesis Note=Strongly reduces interaction with ARRB1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 849_849 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1%2C ARRB1 and EPN1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 851_851 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 879_879 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 879_879 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 888_888 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPN1 and clathrin. No effect on EPS15 binding. Abolishes interaction with ARRB1 and with DENND1B. Y->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:10944104,PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 902_902 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1 and ARRB1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 917_917 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1. SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10944104;Dbxref=PMID:10944104 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 10_12 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 13_23 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 27_41 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 42_44 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 48_50 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 51_55 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 56_58 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 59_61 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 63_79 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 81_86 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 89_92 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 93_95 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 100_110 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 116_118 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 119_122 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 125_129 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 135_150 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 157_160 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 162_169 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 174_188 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 192_195 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 200_213 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 218_226 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 232_235 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 236_243 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 245_247 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 254_265 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 267_270 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 272_276 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 277_290 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 291_293 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 296_312 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 314_319 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 321_324 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 332_344 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 348_350 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 351_361 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 367_383 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 385_387 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 388_400 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 404_420 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 423_425 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 427_433 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 434_438 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 442_452 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 456_458 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 462_470 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 473_476 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 478_494 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 496_499 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 500_511 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 517_530 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 536_542 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 552_554 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 559_564 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 565_568 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 571_574 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 578_580 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 619_621 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 624_630 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 712_715 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 717_719 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 720_722 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 723_732 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 735_744 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 746_748 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 754_757 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 765_768 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 781_790 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 802_808 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 813_819 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 822_825 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 834_843 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 846_848 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 850_854 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 861_870 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 874_881 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 884_893 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 898_905 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 910_920 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 921_923 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000312678 P63010 18 22 924_936 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 1_1 846.3333333333334 952.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 2_937 846.3333333333334 952.0 not_retained Chain ID=PRO_0000193742;Note=AP-2 complex subunit beta Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 841_937 846.3333333333334 952.0 not_retained Region Note=Interaction with ARRB1 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 576_716 846.3333333333334 952.0 not_retained Compositional bias Note=Pro-rich (stalk region) Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 2_2 846.3333333333334 952.0 not_retained Modified residue Note=N-acetylthreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 4_4 846.3333333333334 952.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 265_265 846.3333333333334 952.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 737_737 846.3333333333334 952.0 not_retained Modified residue Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17456551,ECO:0000269|PubMed:18938240;Dbxref=PMID:17456551,PMID:18938240 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 928_928 846.3333333333334 952.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62944 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 1_57 846.3333333333334 952.0 not_retained Alternative sequence ID=VSP_047805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15897975;Dbxref=PMID:15897975 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 663_663 846.3333333333334 952.0 not_retained Alternative sequence ID=VSP_011490;Note=In isoform 2. L->LLGSDLGGGIGGSPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 815_815 846.3333333333334 952.0 not_retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPS15%2C AMPH and BIN1 and clathrin heavy chain. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783;Dbxref=PMID:16516836,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 841_841 846.3333333333334 952.0 not_retained Mutagenesis Note=Abolishes interaction with LDLRAP1 and ARRB1. Greatly reduces DENND1B-binding. W->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 842_842 846.3333333333334 952.0 not_retained Mutagenesis Note=Strongly reduces interaction with ARRB1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 849_849 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1%2C ARRB1 and EPN1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 851_851 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 879_879 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 879_879 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 888_888 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPN1 and clathrin. No effect on EPS15 binding. Abolishes interaction with ARRB1 and with DENND1B. Y->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:10944104,PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 902_902 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1 and ARRB1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 917_917 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1. SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10944104;Dbxref=PMID:10944104 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 10_12 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 13_23 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 27_41 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 42_44 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 48_50 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 51_55 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 56_58 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 59_61 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 63_79 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 81_86 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 89_92 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 93_95 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 100_110 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 116_118 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 119_122 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 125_129 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 135_150 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 157_160 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 162_169 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 174_188 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 192_195 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 200_213 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 218_226 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 232_235 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 236_243 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 245_247 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 254_265 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 267_270 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 272_276 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 277_290 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 291_293 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 296_312 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 314_319 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 321_324 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 332_344 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 348_350 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 351_361 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 367_383 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 385_387 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 388_400 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 404_420 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 423_425 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 427_433 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 434_438 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 442_452 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 456_458 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 462_470 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 473_476 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 478_494 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 496_499 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 500_511 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 517_530 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 536_542 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 552_554 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 559_564 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 565_568 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 571_574 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 578_580 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 619_621 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 624_630 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 712_715 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 717_719 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 720_722 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 723_732 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 735_744 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 746_748 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 754_757 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 765_768 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 781_790 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 802_808 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 813_819 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 822_825 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 834_843 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 846_848 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 850_854 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 861_870 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 874_881 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 884_893 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 898_905 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 910_920 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 921_923 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000589344 P63010 18 22 924_936 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 1_1 846.3333333333334 952.0 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 2_937 846.3333333333334 952.0 not_retained Chain ID=PRO_0000193742;Note=AP-2 complex subunit beta Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 841_937 846.3333333333334 952.0 not_retained Region Note=Interaction with ARRB1 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 576_716 846.3333333333334 952.0 not_retained Compositional bias Note=Pro-rich (stalk region) Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 2_2 846.3333333333334 952.0 not_retained Modified residue Note=N-acetylthreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 4_4 846.3333333333334 952.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 265_265 846.3333333333334 952.0 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 737_737 846.3333333333334 952.0 not_retained Modified residue Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17456551,ECO:0000269|PubMed:18938240;Dbxref=PMID:17456551,PMID:18938240 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 928_928 846.3333333333334 952.0 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62944 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 1_57 846.3333333333334 952.0 not_retained Alternative sequence ID=VSP_047805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15897975;Dbxref=PMID:15897975 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 663_663 846.3333333333334 952.0 not_retained Alternative sequence ID=VSP_011490;Note=In isoform 2. L->LLGSDLGGGIGGSPA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 815_815 846.3333333333334 952.0 not_retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPS15%2C AMPH and BIN1 and clathrin heavy chain. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783;Dbxref=PMID:16516836,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 841_841 846.3333333333334 952.0 not_retained Mutagenesis Note=Abolishes interaction with LDLRAP1 and ARRB1. Greatly reduces DENND1B-binding. W->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 842_842 846.3333333333334 952.0 not_retained Mutagenesis Note=Strongly reduces interaction with ARRB1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 849_849 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1%2C ARRB1 and EPN1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 851_851 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with ARRB1. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16903783;Dbxref=PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 879_879 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 879_879 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding. R->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:16903783;Dbxref=PMID:10944104,PMID:16903783 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 888_888 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with SNAP91%2C EPN1 and clathrin. No effect on EPS15 binding. Abolishes interaction with ARRB1 and with DENND1B. Y->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944104,ECO:0000269|PubMed:15728179,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:20154091;Dbxref=PMID:10944104,PMID:15728179,PMID:16516836,PMID:16903783,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 902_902 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1 and ARRB1. No effect on DENND1B-binding. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11777907,ECO:0000269|PubMed:16516836,ECO:0000269|PubMed:20154091;Dbxref=PMID:11777907,PMID:16516836,PMID:20154091 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 917_917 846.3333333333334 952.0 retained Mutagenesis Note=Strongly reduces interaction with LDLRAP1. SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10944104;Dbxref=PMID:10944104 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 10_12 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 13_23 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 27_41 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 42_44 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 48_50 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 51_55 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 56_58 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 59_61 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 63_79 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 81_86 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 89_92 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 93_95 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 100_110 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 116_118 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2VGL Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 119_122 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 125_129 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 135_150 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 157_160 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 162_169 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 174_188 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 192_195 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 200_213 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 218_226 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 232_235 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 236_243 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 245_247 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 254_265 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 267_270 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2JKR Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 272_276 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 277_290 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 291_293 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 296_312 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 314_319 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 321_324 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 332_344 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 348_350 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 351_361 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 367_383 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 385_387 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 388_400 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 404_420 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 423_425 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 427_433 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 434_438 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 442_452 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 456_458 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 462_470 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 473_476 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 478_494 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 496_499 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 500_511 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 517_530 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 536_542 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 552_554 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 559_564 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 565_568 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 571_574 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 578_580 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6QH5 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 619_621 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 624_630 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4UQI Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 712_715 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 717_719 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 720_722 846.3333333333334 952.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 723_732 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 735_744 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 746_748 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 754_757 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 765_768 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 781_790 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 802_808 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 813_819 846.3333333333334 952.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 822_825 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 834_843 846.3333333333334 952.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 846_848 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 850_854 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 861_870 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 874_881 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 884_893 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 898_905 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 910_920 846.3333333333334 952.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 921_923 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + AP2B1 chr17:34037253 ENST00000537622 P63010 18 22 924_936 846.3333333333334 952.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2G30 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 1_443 357.3333333333333 444.0 not_retained Chain ID=PRO_0000197083;Note=Transcriptional adapter 2-alpha Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 70_122 357.3333333333333 444.0 not_retained Domain Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00624 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 356_443 357.3333333333333 444.0 retained Domain Note=SWIRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00247 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 426_435 357.3333333333333 444.0 retained DNA binding Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 17_45 357.3333333333333 444.0 not_retained Compositional bias Note=Cys-rich Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 6_6 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 132_132 357.3333333333333 444.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 138_138 357.3333333333333 444.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 275_305 357.3333333333333 444.0 not_retained Alternative sequence ID=VSP_040347;Note=In isoform 2. LEFELRREIKRLQEYRTAGITNFCSARTYDH->CRWFLSLEQYLCVYIYINRRDNGVFYVKFYK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 306_443 357.3333333333333 444.0 not_retained Alternative sequence ID=VSP_040348;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 6_6 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 115_115 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047467;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1054865,PMID:14702039 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 351_351 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047468;Note=I->M;Dbxref=dbSNP:rs2522969 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 117_117 357.3333333333333 444.0 not_retained Sequence conflict Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 153_153 357.3333333333333 444.0 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 185_185 357.3333333333333 444.0 not_retained Sequence conflict Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 304_304 357.3333333333333 444.0 not_retained Sequence conflict Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 342_342 357.3333333333333 444.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 73_75 357.3333333333333 444.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 77_89 357.3333333333333 444.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 95_102 357.3333333333333 444.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000394395 O75478 13 16 107_117 357.3333333333333 444.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 1_443 0 306.0 retained Chain ID=PRO_0000197083;Note=Transcriptional adapter 2-alpha Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 70_122 0 306.0 retained Domain Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00624 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 356_443 0 306.0 retained Domain Note=SWIRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00247 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 426_435 0 306.0 retained DNA binding Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 17_45 0 306.0 retained Compositional bias Note=Cys-rich Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 6_6 0 306.0 retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 132_132 0 306.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 138_138 0 306.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 275_305 0 306.0 retained Alternative sequence ID=VSP_040347;Note=In isoform 2. LEFELRREIKRLQEYRTAGITNFCSARTYDH->CRWFLSLEQYLCVYIYINRRDNGVFYVKFYK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 306_443 0 306.0 retained Alternative sequence ID=VSP_040348;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 6_6 0 306.0 retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 115_115 0 306.0 retained Natural variant ID=VAR_047467;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1054865,PMID:14702039 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 351_351 0 306.0 retained Natural variant ID=VAR_047468;Note=I->M;Dbxref=dbSNP:rs2522969 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 117_117 0 306.0 retained Sequence conflict Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 153_153 0 306.0 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 185_185 0 306.0 retained Sequence conflict Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 304_304 0 306.0 retained Sequence conflict Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 342_342 0 306.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 73_75 0 306.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 77_89 0 306.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 95_102 0 306.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000586023 O75478 0 11 107_117 0 306.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 1_443 357.3333333333333 444.0 not_retained Chain ID=PRO_0000197083;Note=Transcriptional adapter 2-alpha Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 70_122 357.3333333333333 444.0 not_retained Domain Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00624 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 356_443 357.3333333333333 444.0 retained Domain Note=SWIRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00247 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 426_435 357.3333333333333 444.0 retained DNA binding Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 17_45 357.3333333333333 444.0 not_retained Compositional bias Note=Cys-rich Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 6_6 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 132_132 357.3333333333333 444.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 138_138 357.3333333333333 444.0 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 275_305 357.3333333333333 444.0 not_retained Alternative sequence ID=VSP_040347;Note=In isoform 2. LEFELRREIKRLQEYRTAGITNFCSARTYDH->CRWFLSLEQYLCVYIYINRRDNGVFYVKFYK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 306_443 357.3333333333333 444.0 not_retained Alternative sequence ID=VSP_040348;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 6_6 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 115_115 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047467;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1054865,PMID:14702039 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 351_351 357.3333333333333 444.0 not_retained Natural variant ID=VAR_047468;Note=I->M;Dbxref=dbSNP:rs2522969 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 117_117 357.3333333333333 444.0 not_retained Sequence conflict Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 153_153 357.3333333333333 444.0 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 185_185 357.3333333333333 444.0 not_retained Sequence conflict Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 304_304 357.3333333333333 444.0 not_retained Sequence conflict Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 342_342 357.3333333333333 444.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 73_75 357.3333333333333 444.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 77_89 357.3333333333333 444.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 95_102 357.3333333333333 444.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000225396 O75478 13 16 107_117 357.3333333333333 444.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 1_443 0 306.0 retained Chain ID=PRO_0000197083;Note=Transcriptional adapter 2-alpha Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 70_122 0 306.0 retained Domain Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00624 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 356_443 0 306.0 retained Domain Note=SWIRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00247 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 426_435 0 306.0 retained DNA binding Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 17_45 0 306.0 retained Compositional bias Note=Cys-rich Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 6_6 0 306.0 retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 132_132 0 306.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 138_138 0 306.0 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 275_305 0 306.0 retained Alternative sequence ID=VSP_040347;Note=In isoform 2. LEFELRREIKRLQEYRTAGITNFCSARTYDH->CRWFLSLEQYLCVYIYINRRDNGVFYVKFYK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 306_443 0 306.0 retained Alternative sequence ID=VSP_040348;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 6_6 0 306.0 retained Natural variant ID=VAR_047466;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:8552087,ECO:0000269|Ref.2,ECO:0007744|PubMed:23186163;Dbxref=dbSNP:rs7211875,PMID:14702039,PMID:15489334,PMID:8552087,PMID:23186163 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 115_115 0 306.0 retained Natural variant ID=VAR_047467;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1054865,PMID:14702039 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 351_351 0 306.0 retained Natural variant ID=VAR_047468;Note=I->M;Dbxref=dbSNP:rs2522969 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 117_117 0 306.0 retained Sequence conflict Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 153_153 0 306.0 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 185_185 0 306.0 retained Sequence conflict Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 304_304 0 306.0 retained Sequence conflict Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 342_342 0 306.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 73_75 0 306.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 77_89 0 306.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 95_102 0 306.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35311207 + TADA2A chr17:35834661 ENST00000417170 O75478 0 11 107_117 0 306.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1X41 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 1_212 159.0 213.0 not_retained Chain ID=PRO_0000212549;Note=Golgi SNAP receptor complex member 2 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 1_190 159.0 213.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 191_211 159.0 213.0 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 212_212 159.0 213.0 retained Topological domain Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 61_107 159.0 213.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 118_120 159.0 213.0 not_retained Motif Note=IxM motif%3B signal for cargo packaging into COPII-coated vesicles;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 1_1 159.0 213.0 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 160_212 159.0 213.0 retained Alternative sequence ID=VSP_043200;Note=In isoform 3. GTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT->VGSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 196_212 159.0 213.0 retained Alternative sequence ID=VSP_001829;Note=In isoform B. GMLLTCVVMFLVVQYLT->TQGSCQTAHFGGRSAGSS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 67_67 159.0 213.0 not_retained Natural variant ID=VAR_024471;Note=R->K;Dbxref=dbSNP:rs197922 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 144_144 159.0 213.0 not_retained Natural variant ID=VAR_065833;Note=In EPM6%3B no effect on protein stability%3B loss of localization to the cis-Golgi network membrane%3B loss of function%3B unable to rescue the yeast strain lacking the ortholog Bos1. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21549339;Dbxref=dbSNP:rs387906881,PMID:21549339 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 118_118 159.0 213.0 not_retained Mutagenesis Note=Loss of interaction with SEC24C. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 120_120 159.0 213.0 not_retained Mutagenesis Note=Loss of interaction with SEC24C. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 106_106 159.0 213.0 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 113_113 159.0 213.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 166_166 159.0 213.0 retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000393456 O14653 4 6 117_119 159.0 213.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3EG9 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 1_212 0 196.0 retained Chain ID=PRO_0000212549;Note=Golgi SNAP receptor complex member 2 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 1_190 0 196.0 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 191_211 0 196.0 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 212_212 0 196.0 retained Topological domain Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 61_107 0 196.0 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 118_120 0 196.0 retained Motif Note=IxM motif%3B signal for cargo packaging into COPII-coated vesicles;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 1_1 0 196.0 retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 160_212 0 196.0 retained Alternative sequence ID=VSP_043200;Note=In isoform 3. GTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT->VGSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 196_212 0 196.0 retained Alternative sequence ID=VSP_001829;Note=In isoform B. GMLLTCVVMFLVVQYLT->TQGSCQTAHFGGRSAGSS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 67_67 0 196.0 retained Natural variant ID=VAR_024471;Note=R->K;Dbxref=dbSNP:rs197922 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 144_144 0 196.0 retained Natural variant ID=VAR_065833;Note=In EPM6%3B no effect on protein stability%3B loss of localization to the cis-Golgi network membrane%3B loss of function%3B unable to rescue the yeast strain lacking the ortholog Bos1. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21549339;Dbxref=dbSNP:rs387906881,PMID:21549339 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 118_118 0 196.0 retained Mutagenesis Note=Loss of interaction with SEC24C. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 120_120 0 196.0 retained Mutagenesis Note=Loss of interaction with SEC24C. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 106_106 0 196.0 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 113_113 0 196.0 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 166_166 0 196.0 retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000415811 O14653 0 5 117_119 0 196.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3EG9 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 1_212 159.0 214.0 not_retained Chain ID=PRO_0000212549;Note=Golgi SNAP receptor complex member 2 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 1_190 159.0 214.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 191_211 159.0 214.0 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 212_212 159.0 214.0 retained Topological domain Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 61_107 159.0 214.0 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 118_120 159.0 214.0 not_retained Motif Note=IxM motif%3B signal for cargo packaging into COPII-coated vesicles;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 1_1 159.0 214.0 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 160_212 159.0 214.0 retained Alternative sequence ID=VSP_043200;Note=In isoform 3. GTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT->VGSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 196_212 159.0 214.0 retained Alternative sequence ID=VSP_001829;Note=In isoform B. GMLLTCVVMFLVVQYLT->TQGSCQTAHFGGRSAGSS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 67_67 159.0 214.0 not_retained Natural variant ID=VAR_024471;Note=R->K;Dbxref=dbSNP:rs197922 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 144_144 159.0 214.0 not_retained Natural variant ID=VAR_065833;Note=In EPM6%3B no effect on protein stability%3B loss of localization to the cis-Golgi network membrane%3B loss of function%3B unable to rescue the yeast strain lacking the ortholog Bos1. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21549339;Dbxref=dbSNP:rs387906881,PMID:21549339 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 118_118 159.0 214.0 not_retained Mutagenesis Note=Loss of interaction with SEC24C. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 120_120 159.0 214.0 not_retained Mutagenesis Note=Loss of interaction with SEC24C. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18843296;Dbxref=PMID:18843296 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 106_106 159.0 214.0 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 113_113 159.0 214.0 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 166_166 159.0 214.0 retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 - GOSR2 chr17:45015965 ENST00000225567 O14653 4 7 117_119 159.0 214.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3EG9 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 1_42 663.0 1010.0 not_retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 43_1009 663.0 1010.0 not_retained Chain ID=PRO_0000059574;Note=DNA ligase 3 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 933_1009 663.0 1010.0 retained Alternative sequence ID=VSP_001302;Note=In isoform 2 and isoform 4. VLLDIFTGVRLYLPPSTPDFSRLRRYFVAFDGDLVQEFDMTSATHVLGSRDKNPAAQQVSPEWIWACIRKRRLVAPC->RRPASEQRGRTVPAGRR;Ontology_term=ECO:0000303,ECO:0000305;evidence=ECO:0000303|PubMed:7565692,ECO:0000305;Dbxref=PMID:7565692 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 93_185 663.0 1010.0 not_retained Zinc finger Note=PARP-type;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00264,ECO:0000269|PubMed:15288782;Dbxref=PMID:15288782 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 277_280 663.0 1010.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 318_323 663.0 1010.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 388_391 663.0 1010.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 421_427 663.0 1010.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 508_508 663.0 1010.0 not_retained Active site Note=N6-AMP-lysine intermediate;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU10135,ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 560_560 663.0 1010.0 not_retained Metal binding Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 655_655 663.0 1010.0 not_retained Metal binding Note=Magnesium 2;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 506_506 663.0 1010.0 not_retained Binding site Note=ATP;Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305,ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 513_513 663.0 1010.0 not_retained Binding site Note=ATP;Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305,ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 528_528 663.0 1010.0 not_retained Binding site Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 660_660 663.0 1010.0 retained Binding site Note=ATP;Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305,ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 671_671 663.0 1010.0 retained Binding site Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 675_675 663.0 1010.0 retained Binding site Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 210_210 663.0 1010.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:16964243,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:16964243,PMID:20068231,PMID:21406692,PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 216_216 663.0 1010.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 227_227 663.0 1010.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 242_242 663.0 1010.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 913_913 663.0 1010.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 1_87 663.0 1010.0 not_retained Alternative sequence ID=VSP_057464;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 933_1009 663.0 1010.0 retained Alternative sequence ID=VSP_001302;Note=In isoform 2 and isoform 4. VLLDIFTGVRLYLPPSTPDFSRLRRYFVAFDGDLVQEFDMTSATHVLGSRDKNPAAQQVSPEWIWACIRKRRLVAPC->RRPASEQRGRTVPAGRR;Ontology_term=ECO:0000303,ECO:0000305;evidence=ECO:0000303|PubMed:7565692,ECO:0000305;Dbxref=PMID:7565692 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 224_224 663.0 1010.0 not_retained Natural variant ID=VAR_020196;Note=R->W;Dbxref=dbSNP:rs3744356 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 717_717 663.0 1010.0 retained Natural variant ID=VAR_036513;Note=In a colorectal cancer sample%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs757797167,PMID:16959974 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 768_768 663.0 1010.0 retained Natural variant ID=VAR_072387;Note=Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20843780;Dbxref=dbSNP:rs200981995,PMID:20843780 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 867_867 663.0 1010.0 retained Natural variant ID=VAR_018807;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs3136025 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 898_898 663.0 1010.0 retained Natural variant ID=VAR_021938;Note=K->T;Dbxref=dbSNP:rs4986974 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 986_986 663.0 1010.0 retained Natural variant ID=VAR_020197;Note=P->S;Dbxref=dbSNP:rs4986973 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 410_410 663.0 1010.0 not_retained Mutagenesis Note=Nearly abolishes ligase activity with blunt-ended DNA%2C but not with nicked DNA. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 414_414 663.0 1010.0 not_retained Mutagenesis Note=Abolishes ligase activity with blunt-ended DNA%2C but not with nicked DNA. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 92_97 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 117_124 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 140_149 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 152_154 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 161_165 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 166_168 663.0 1010.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 171_185 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 188_190 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 259_261 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 263_274 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 279_291 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 303_310 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 312_314 663.0 1010.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 323_334 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 338_344 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 345_347 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 350_359 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 362_364 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 374_385 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 390_401 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 407_416 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 421_423 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 426_431 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 437_443 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 447_459 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 485_488 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 492_498 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 503_507 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 511_519 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 522_526 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 535_537 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 538_540 663.0 1010.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 541_543 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 545_548 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 553_564 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 566_568 663.0 1010.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 574_577 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 579_584 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 590_600 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 610_620 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 625_627 663.0 1010.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 628_630 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 633_636 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 639_651 663.0 1010.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 657_663 663.0 1010.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 671_676 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 678_680 663.0 1010.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 688_698 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 710_716 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 718_720 663.0 1010.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 721_729 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 735_740 663.0 1010.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 741_743 663.0 1010.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 780_787 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 789_791 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 795_797 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 800_804 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 816_819 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 822_830 663.0 1010.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 924_927 663.0 1010.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1IMO Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 930_932 663.0 1010.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3QVG Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 936_938 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1IMO Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 942_944 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3QVG Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 952_961 663.0 1010.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 969_974 663.0 1010.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 976_980 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 982_984 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3QVG Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 988_991 663.0 1010.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000378526 P49916 12 20 993_1002 663.0 1010.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 1_42 663.0 950.0 not_retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 43_1009 663.0 950.0 not_retained Chain ID=PRO_0000059574;Note=DNA ligase 3 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 933_1009 663.0 950.0 retained Alternative sequence ID=VSP_001302;Note=In isoform 2 and isoform 4. VLLDIFTGVRLYLPPSTPDFSRLRRYFVAFDGDLVQEFDMTSATHVLGSRDKNPAAQQVSPEWIWACIRKRRLVAPC->RRPASEQRGRTVPAGRR;Ontology_term=ECO:0000303,ECO:0000305;evidence=ECO:0000303|PubMed:7565692,ECO:0000305;Dbxref=PMID:7565692 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 93_185 663.0 950.0 not_retained Zinc finger Note=PARP-type;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00264,ECO:0000269|PubMed:15288782;Dbxref=PMID:15288782 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 277_280 663.0 950.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 318_323 663.0 950.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 388_391 663.0 950.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 421_427 663.0 950.0 not_retained Region Note=Interaction with DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 508_508 663.0 950.0 not_retained Active site Note=N6-AMP-lysine intermediate;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU10135,ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 560_560 663.0 950.0 not_retained Metal binding Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 655_655 663.0 950.0 not_retained Metal binding Note=Magnesium 2;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 506_506 663.0 950.0 not_retained Binding site Note=ATP;Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305,ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 513_513 663.0 950.0 not_retained Binding site Note=ATP;Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305,ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 528_528 663.0 950.0 not_retained Binding site Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 660_660 663.0 950.0 retained Binding site Note=ATP;Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305,ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 671_671 663.0 950.0 retained Binding site Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 675_675 663.0 950.0 retained Binding site Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 210_210 663.0 950.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:16964243,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:16964243,PMID:20068231,PMID:21406692,PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 216_216 663.0 950.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 227_227 663.0 950.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 242_242 663.0 950.0 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 913_913 663.0 950.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 1_87 663.0 950.0 not_retained Alternative sequence ID=VSP_057464;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 933_1009 663.0 950.0 retained Alternative sequence ID=VSP_001302;Note=In isoform 2 and isoform 4. VLLDIFTGVRLYLPPSTPDFSRLRRYFVAFDGDLVQEFDMTSATHVLGSRDKNPAAQQVSPEWIWACIRKRRLVAPC->RRPASEQRGRTVPAGRR;Ontology_term=ECO:0000303,ECO:0000305;evidence=ECO:0000303|PubMed:7565692,ECO:0000305;Dbxref=PMID:7565692 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 224_224 663.0 950.0 not_retained Natural variant ID=VAR_020196;Note=R->W;Dbxref=dbSNP:rs3744356 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 717_717 663.0 950.0 retained Natural variant ID=VAR_036513;Note=In a colorectal cancer sample%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs757797167,PMID:16959974 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 768_768 663.0 950.0 retained Natural variant ID=VAR_072387;Note=Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20843780;Dbxref=dbSNP:rs200981995,PMID:20843780 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 867_867 663.0 950.0 retained Natural variant ID=VAR_018807;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs3136025 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 898_898 663.0 950.0 retained Natural variant ID=VAR_021938;Note=K->T;Dbxref=dbSNP:rs4986974 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 986_986 663.0 950.0 retained Natural variant ID=VAR_020197;Note=P->S;Dbxref=dbSNP:rs4986973 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 410_410 663.0 950.0 not_retained Mutagenesis Note=Nearly abolishes ligase activity with blunt-ended DNA%2C but not with nicked DNA. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 414_414 663.0 950.0 not_retained Mutagenesis Note=Abolishes ligase activity with blunt-ended DNA%2C but not with nicked DNA. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20518483;Dbxref=PMID:20518483 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 92_97 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 117_124 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 140_149 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 152_154 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 161_165 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 166_168 663.0 950.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 171_185 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 188_190 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1UW0 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 259_261 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 263_274 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 279_291 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 303_310 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 312_314 663.0 950.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 323_334 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 338_344 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 345_347 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 350_359 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 362_364 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 374_385 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 390_401 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 407_416 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 421_423 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 426_431 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 437_443 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 447_459 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 485_488 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 492_498 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 503_507 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 511_519 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 522_526 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 535_537 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 538_540 663.0 950.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 541_543 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 545_548 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 553_564 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 566_568 663.0 950.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 574_577 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 579_584 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 590_600 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 610_620 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 625_627 663.0 950.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 628_630 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 633_636 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 639_651 663.0 950.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 657_663 663.0 950.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 671_676 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 678_680 663.0 950.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 688_698 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 710_716 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 718_720 663.0 950.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 721_729 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 735_740 663.0 950.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 741_743 663.0 950.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 780_787 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 789_791 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 795_797 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 800_804 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 816_819 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 822_830 663.0 950.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3L2P Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 924_927 663.0 950.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1IMO Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 930_932 663.0 950.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3QVG Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 936_938 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:1IMO Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 942_944 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3QVG Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 952_961 663.0 950.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 969_974 663.0 950.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 976_980 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 982_984 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3QVG Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 988_991 663.0 950.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene AATF chr17:35348156 + LIG3 chr17:33325623 ENST00000262327 P49916 12 20 993_1002 663.0 950.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3PC7 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 1_399 73.0 400.0 not_retained Chain ID=PRO_0000114480;Note=Sphingosine-1-phosphate phosphatase 2 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 88_108 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 121_141 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 160_180 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 185_205 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 219_239 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 247_267 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 280_300 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 318_338 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 371_391 73.0 400.0 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 136_144 73.0 400.0 retained Region Note=Phosphatase sequence motif I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 163_166 73.0 400.0 retained Region Note=Phosphatase sequence motif II;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 206_217 73.0 400.0 retained Region Note=Phosphatase sequence motif III;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 166_166 73.0 400.0 retained Active site Note=Proton donor;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A924 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 213_213 73.0 400.0 retained Active site Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A924 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 217_217 73.0 400.0 retained Site Note=Stabilizes the active site histidine for nucleophilic attack;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A924 Tgene ABCA12 chr2:215890397 - SGPP2 chr2:223339287 ENST00000321276 Q8IWX5 0 5 1_128 73.0 400.0 not_retained Alternative sequence ID=VSP_039385;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 1_216 147.0 217.0 not_retained Chain ID=PRO_0000121110;Note=Ras-related protein Rab-5C Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 28_36 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 47_53 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 76_80 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 134_137 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 164_166 147.0 217.0 retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 50_58 147.0 217.0 not_retained Motif Note=Effector region;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 85_85 147.0 217.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 213_213 147.0 217.0 retained Lipidation Note=S-geranylgeranyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 214_214 147.0 217.0 retained Lipidation Note=S-geranylgeranyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 1_1 147.0 217.0 not_retained Alternative sequence ID=VSP_046035;Note=In isoform 2. M->MELSWRSPSPLSASLHSTSPHPHALWTTTAGRAM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 40_40 147.0 217.0 not_retained Natural variant ID=VAR_036414;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs1280509335,PMID:16959974 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 85_85 147.0 217.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 85_85 147.0 217.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 8_8 147.0 217.0 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 8_8 147.0 217.0 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 20_27 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 34_41 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 55_65 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 68_77 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 81_86 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 87_91 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 95_102 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 106_122 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 128_134 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 139_141 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 146_155 147.0 217.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 159_162 147.0 217.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 165_168 147.0 217.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000346213 P51148 3 6 171_181 147.0 217.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 1_216 147.0 217.0 not_retained Chain ID=PRO_0000121110;Note=Ras-related protein Rab-5C Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 28_36 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 47_53 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 76_80 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 134_137 147.0 217.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 164_166 147.0 217.0 retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 50_58 147.0 217.0 not_retained Motif Note=Effector region;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 85_85 147.0 217.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 213_213 147.0 217.0 retained Lipidation Note=S-geranylgeranyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 214_214 147.0 217.0 retained Lipidation Note=S-geranylgeranyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 1_1 147.0 217.0 not_retained Alternative sequence ID=VSP_046035;Note=In isoform 2. M->MELSWRSPSPLSASLHSTSPHPHALWTTTAGRAM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 40_40 147.0 217.0 not_retained Natural variant ID=VAR_036414;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs1280509335,PMID:16959974 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 85_85 147.0 217.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 85_85 147.0 217.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 8_8 147.0 217.0 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 8_8 147.0 217.0 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 20_27 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 34_41 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 55_65 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 68_77 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 81_86 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 87_91 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 95_102 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 106_122 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 128_134 147.0 217.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 139_141 147.0 217.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 146_155 147.0 217.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 159_162 147.0 217.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 165_168 147.0 217.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000393860 P51148 4 7 171_181 147.0 217.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 1_216 180.0 250.0 not_retained Chain ID=PRO_0000121110;Note=Ras-related protein Rab-5C Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 28_36 180.0 250.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 47_53 180.0 250.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 76_80 180.0 250.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 134_137 180.0 250.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 164_166 180.0 250.0 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P20339 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 50_58 180.0 250.0 not_retained Motif Note=Effector region;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 85_85 180.0 250.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 213_213 180.0 250.0 retained Lipidation Note=S-geranylgeranyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 214_214 180.0 250.0 retained Lipidation Note=S-geranylgeranyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 1_1 180.0 250.0 not_retained Alternative sequence ID=VSP_046035;Note=In isoform 2. M->MELSWRSPSPLSASLHSTSPHPHALWTTTAGRAM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 40_40 180.0 250.0 not_retained Natural variant ID=VAR_036414;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs1280509335,PMID:16959974 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 85_85 180.0 250.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 85_85 180.0 250.0 not_retained Mutagenesis Note=Phosphomimetic mutant. Loss of GDI1%2C GDI2%2C CHML and CHM binding. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29125462;Dbxref=PMID:29125462 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 8_8 180.0 250.0 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 8_8 180.0 250.0 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 20_27 180.0 250.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 34_41 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 55_65 180.0 250.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 68_77 180.0 250.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 81_86 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 87_91 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 95_102 180.0 250.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 106_122 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 128_134 180.0 250.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 139_141 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 146_155 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 159_162 180.0 250.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 165_168 180.0 250.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - RAB5C chr17:40278866 ENST00000547517 P51148 4 7 171_181 180.0 250.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:4KYI Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 1_744 240.33333333333334 257.0 not_retained Chain ID=PRO_0000047610;Note=Zinc finger protein 483 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 52_134 240.33333333333334 257.0 not_retained Domain Note=SCAN box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00187 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 170_241 240.33333333333334 257.0 not_retained Domain Note=KRAB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00119 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 439_461 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 467_489 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 495_517 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 523_545 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 551_573 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 579_601 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 607_629 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 635_657 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 663_685 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 691_713 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 719_741 240.33333333333334 257.0 retained Zinc finger Note=C2H2-type 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 242_256 240.33333333333334 257.0 retained Alternative sequence ID=VSP_043023;Note=In isoform 2. ESALDKIIERCLRDD->IHGAVKKMQMFSEAE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 257_744 240.33333333333334 257.0 retained Alternative sequence ID=VSP_043024;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 436_436 240.33333333333334 257.0 retained Sequence conflict Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 388_391 240.33333333333334 257.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 393_395 240.33333333333334 257.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 398_400 240.33333333333334 257.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 408_410 240.33333333333334 257.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000358151 Q8TF39 4 6 414_418 240.33333333333334 257.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 1_744 0 745.0 retained Chain ID=PRO_0000047610;Note=Zinc finger protein 483 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 52_134 0 745.0 retained Domain Note=SCAN box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00187 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 170_241 0 745.0 retained Domain Note=KRAB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00119 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 439_461 0 745.0 retained Zinc finger Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 467_489 0 745.0 retained Zinc finger Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 495_517 0 745.0 retained Zinc finger Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 523_545 0 745.0 retained Zinc finger Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 551_573 0 745.0 retained Zinc finger Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 579_601 0 745.0 retained Zinc finger Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 607_629 0 745.0 retained Zinc finger Note=C2H2-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 635_657 0 745.0 retained Zinc finger Note=C2H2-type 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 663_685 0 745.0 retained Zinc finger Note=C2H2-type 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 691_713 0 745.0 retained Zinc finger Note=C2H2-type 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 719_741 0 745.0 retained Zinc finger Note=C2H2-type 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 242_256 0 745.0 retained Alternative sequence ID=VSP_043023;Note=In isoform 2. ESALDKIIERCLRDD->IHGAVKKMQMFSEAE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 257_744 0 745.0 retained Alternative sequence ID=VSP_043024;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 436_436 0 745.0 retained Sequence conflict Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 388_391 0 745.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 393_395 0 745.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 398_400 0 745.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 408_410 0 745.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107645320 - ZNF483 chr9:114338645 ENST00000309235 Q8TF39 0 6 414_418 0 745.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:2CTU Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1_1236 407.6666666666667 1237.0 not_retained Chain ID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1_86 407.6666666666667 1237.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 87_107 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S0;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 108_178 407.6666666666667 1237.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 179_199 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 200_214 407.6666666666667 1237.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 215_235 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 236_239 407.6666666666667 1237.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 240_260 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 261_264 407.6666666666667 1237.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 265_285 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 286_300 407.6666666666667 1237.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 301_321 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 322_335 407.6666666666667 1237.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 336_358 407.6666666666667 1237.0 not_retained Intramembrane Note=Pore-forming%3B Name%3DP region;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 359_367 407.6666666666667 1237.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 368_388 407.6666666666667 1237.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 389_1236 407.6666666666667 1237.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 415_558 407.6666666666667 1237.0 retained Domain Note=RCK N-terminal Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 556_576 407.6666666666667 1237.0 retained Region Note=Segment S7 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 613_633 407.6666666666667 1237.0 retained Region Note=Segment S8 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 677_681 407.6666666666667 1237.0 retained Region Note=Heme-binding motif Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 837_857 407.6666666666667 1237.0 retained Region Note=Segment S9 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1032_1052 407.6666666666667 1237.0 retained Region Note=Segment S10 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 352_355 407.6666666666667 1237.0 not_retained Motif Note=Selectivity for potassium Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1003_1025 407.6666666666667 1237.0 retained Motif Note=Calcium bowl Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 4_10 407.6666666666667 1237.0 not_retained Compositional bias Note=Poly-Gly Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 13_20 407.6666666666667 1237.0 not_retained Compositional bias Note=Poly-Gly Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 39_60 407.6666666666667 1237.0 not_retained Compositional bias Note=Poly-Ser Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 439_439 407.6666666666667 1237.0 retained Metal binding Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 462_462 407.6666666666667 1237.0 retained Metal binding Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 464_464 407.6666666666667 1237.0 retained Metal binding Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1012_1012 407.6666666666667 1237.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1015_1015 407.6666666666667 1237.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1018_1018 407.6666666666667 1237.0 retained Metal binding Note=Calcium Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1020_1020 407.6666666666667 1237.0 retained Metal binding Note=Calcium Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 763_763 407.6666666666667 1237.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 765_765 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 778_778 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 782_782 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 970_970 407.6666666666667 1237.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 978_978 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 982_982 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1221_1221 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q28204 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1224_1224 407.6666666666667 1237.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q28204 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 118_118 407.6666666666667 1237.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 119_119 407.6666666666667 1237.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-118 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 121_121 407.6666666666667 1237.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 127_168 407.6666666666667 1237.0 not_retained Alternative sequence ID=VSP_009952;Note=In isoform 6. EAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGV->ATHFGSPEMPPAARSWSGSPPEAAVLRGASSLALEVARCRRL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 169_1236 407.6666666666667 1237.0 not_retained Alternative sequence ID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 643_643 407.6666666666667 1237.0 retained Alternative sequence ID=VSP_009954;Note=In isoform 3. R->RSRKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7987297;Dbxref=PMID:7987297 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 698_756 407.6666666666667 1237.0 retained Alternative sequence ID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 698_756 407.6666666666667 1237.0 retained Alternative sequence ID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 698_756 407.6666666666667 1237.0 retained Alternative sequence ID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 828_828 407.6666666666667 1237.0 retained Alternative sequence ID=VSP_009958;Note=In isoform 2. L->LVTGWMPYLGPRVLMTCLDIGVVCMPTDIQSTSPASIKKFKE;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.8 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 375_375 407.6666666666667 1237.0 not_retained Natural variant ID=VAR_083554;Note=In LIWAS%3B loss of voltage-gated potassium channel activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31152168;Dbxref=dbSNP:rs1554829003,PMID:31152168 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 434_434 407.6666666666667 1237.0 retained Natural variant ID=VAR_023821;Note=In PNKD3%3B may have a synergistic effect with ethanol in the triggering of symptoms. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15937479;Dbxref=dbSNP:rs137853333,PMID:15937479 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 458_1236 407.6666666666667 1237.0 retained Natural variant ID=VAR_083555;Note=In CADEDS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29545233;Dbxref=PMID:29545233 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 518_518 407.6666666666667 1237.0 retained Natural variant ID=VAR_083204;Note=Found in a patient with epileptic encephalopathy%3B unknown pathological significance%3B no effect on voltage-dependent sensitivity. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs201996416,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 656_656 407.6666666666667 1237.0 retained Natural variant ID=VAR_083205;Note=Found in a patient with epilepsy%3B unknown pathological significance%3B no effect on voltage-dependent sensitivity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs917980352,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 884_884 407.6666666666667 1237.0 retained Natural variant ID=VAR_079156;Note=In PNKD3. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26195193;Dbxref=PMID:26195193 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1053_1053 407.6666666666667 1237.0 retained Natural variant ID=VAR_079157;Note=In PNKD3 and EIG16%3B increased sensitivity to voltage-dependent activation resulting in increased channel activity%3B no change in calcium sensitivity. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26195193,ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs886039469,PMID:26195193,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1217_1217 407.6666666666667 1237.0 retained Natural variant ID=VAR_083206;Note=Found in patient with epilepsy%3B unknown pathological significance. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs563967757,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 118_118 407.6666666666667 1237.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 119_119 407.6666666666667 1237.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-118 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 121_121 407.6666666666667 1237.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 269_269 407.6666666666667 1237.0 not_retained Mutagenesis Note=No effect in the coupling between calcium and channel opening. L->R%2CH;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 272_272 407.6666666666667 1237.0 not_retained Mutagenesis Note=Induces reduction in the coupling between calcium and channel opening. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 275_275 407.6666666666667 1237.0 not_retained Mutagenesis Note=Induces reduction in the coupling between calcium and channel opening. R->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 278_278 407.6666666666667 1237.0 not_retained Mutagenesis Note=Induces reduction in the coupling between calcium and channel opening. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 281_281 407.6666666666667 1237.0 not_retained Mutagenesis Note=No effect in the coupling between calcium and channel opening. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 284_284 407.6666666666667 1237.0 not_retained Mutagenesis Note=No effect in the coupling between calcium and channel opening. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 352_352 407.6666666666667 1237.0 not_retained Mutagenesis Note=Activated at more negative voltages. Slower rate of inactivation. Impaired inhibition by HMIMP. No effect on channel inhibition by Iberiotoxin. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 354_356 407.6666666666667 1237.0 not_retained Mutagenesis Note=Loss of function. GYG->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11604135;Dbxref=PMID:11604135 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 380_380 407.6666666666667 1237.0 not_retained Mutagenesis Note=Loss of function. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 381_381 407.6666666666667 1237.0 not_retained Mutagenesis Note=Activated at more negative voltages. No effect on inhibition by HMIMP. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 384_384 407.6666666666667 1237.0 not_retained Mutagenesis Note=No effect on activation voltage. No effect on inhibition by HMIMP. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 680_680 407.6666666666667 1237.0 retained Mutagenesis Note=Loss of heme-induced channel inhibition. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14523450;Dbxref=PMID:14523450 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 681_681 407.6666666666667 1237.0 retained Mutagenesis Note=Loss of heme-induced channel inhibition. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14523450;Dbxref=PMID:14523450 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 25_25 407.6666666666667 1237.0 not_retained Sequence conflict Note=M->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 35_35 407.6666666666667 1237.0 not_retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 38_38 407.6666666666667 1237.0 not_retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 449_449 407.6666666666667 1237.0 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 805_805 407.6666666666667 1237.0 retained Sequence conflict Note=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1152_1152 407.6666666666667 1237.0 retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 87_111 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 112_118 407.6666666666667 1237.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 159_170 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 175_198 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 203_206 407.6666666666667 1237.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 209_211 407.6666666666667 1237.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 213_235 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 239_243 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 246_264 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 266_268 407.6666666666667 1237.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 272_281 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 282_287 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 288_290 407.6666666666667 1237.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 295_323 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 327_329 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 339_350 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 356_358 407.6666666666667 1237.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 363_390 407.6666666666667 1237.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 392_395 407.6666666666667 1237.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6ND0 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 409_415 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 418_431 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 435_437 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 439_446 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 453_459 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 463_468 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 470_472 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 473_478 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 481_483 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 485_490 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 498_515 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 521_527 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 528_531 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 532_536 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 537_539 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V35 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 542_544 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 547_550 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 551_564 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 568_574 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 586_588 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3MT5 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 589_597 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 600_605 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 608_610 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 615_626 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 629_634 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 638_640 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 644_647 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 650_653 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 659_665 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 667_670 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 672_675 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 678_681 407.6666666666667 1237.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6ND0 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 685_689 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 803_805 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3MT5 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 813_816 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 823_825 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 830_835 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 842_847 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 850_852 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 858_861 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 863_865 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 867_869 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 871_873 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 877_881 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 883_889 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 890_892 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 893_895 407.6666666666667 1237.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 896_904 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 909_914 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 917_919 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 921_927 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 930_932 407.6666666666667 1237.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 936_938 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 941_952 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 994_996 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1001_1007 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1008_1013 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1016_1018 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1026_1028 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1030_1033 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1036_1039 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1040_1044 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1045_1052 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1055_1065 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1074_1079 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1089_1093 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1094_1096 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1099_1104 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1106_1108 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1111_1114 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1119_1130 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1133_1140 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1141_1143 407.6666666666667 1237.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V35 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1144_1146 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1154_1159 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286628 Q12791 8 28 1171_1176 407.6666666666667 1237.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1_1236 407.6666666666667 1179.0 not_retained Chain ID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1_86 407.6666666666667 1179.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 87_107 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S0;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 108_178 407.6666666666667 1179.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 179_199 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 200_214 407.6666666666667 1179.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 215_235 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 236_239 407.6666666666667 1179.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 240_260 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 261_264 407.6666666666667 1179.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 265_285 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 286_300 407.6666666666667 1179.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 301_321 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 322_335 407.6666666666667 1179.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 336_358 407.6666666666667 1179.0 not_retained Intramembrane Note=Pore-forming%3B Name%3DP region;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 359_367 407.6666666666667 1179.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 368_388 407.6666666666667 1179.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 389_1236 407.6666666666667 1179.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 415_558 407.6666666666667 1179.0 retained Domain Note=RCK N-terminal Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 556_576 407.6666666666667 1179.0 retained Region Note=Segment S7 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 613_633 407.6666666666667 1179.0 retained Region Note=Segment S8 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 677_681 407.6666666666667 1179.0 retained Region Note=Heme-binding motif Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 837_857 407.6666666666667 1179.0 retained Region Note=Segment S9 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1032_1052 407.6666666666667 1179.0 retained Region Note=Segment S10 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 352_355 407.6666666666667 1179.0 not_retained Motif Note=Selectivity for potassium Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1003_1025 407.6666666666667 1179.0 retained Motif Note=Calcium bowl Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 4_10 407.6666666666667 1179.0 not_retained Compositional bias Note=Poly-Gly Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 13_20 407.6666666666667 1179.0 not_retained Compositional bias Note=Poly-Gly Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 39_60 407.6666666666667 1179.0 not_retained Compositional bias Note=Poly-Ser Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 439_439 407.6666666666667 1179.0 retained Metal binding Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 462_462 407.6666666666667 1179.0 retained Metal binding Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 464_464 407.6666666666667 1179.0 retained Metal binding Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1012_1012 407.6666666666667 1179.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1015_1015 407.6666666666667 1179.0 retained Metal binding Note=Calcium%3B via carbonyl oxygen Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1018_1018 407.6666666666667 1179.0 retained Metal binding Note=Calcium Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1020_1020 407.6666666666667 1179.0 retained Metal binding Note=Calcium Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 763_763 407.6666666666667 1179.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 765_765 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 778_778 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 782_782 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 970_970 407.6666666666667 1179.0 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 978_978 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 982_982 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1221_1221 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q28204 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1224_1224 407.6666666666667 1179.0 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q28204 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 118_118 407.6666666666667 1179.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 119_119 407.6666666666667 1179.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-118 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 121_121 407.6666666666667 1179.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 127_168 407.6666666666667 1179.0 not_retained Alternative sequence ID=VSP_009952;Note=In isoform 6. EAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGV->ATHFGSPEMPPAARSWSGSPPEAAVLRGASSLALEVARCRRL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 169_1236 407.6666666666667 1179.0 not_retained Alternative sequence ID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 643_643 407.6666666666667 1179.0 retained Alternative sequence ID=VSP_009954;Note=In isoform 3. R->RSRKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7987297;Dbxref=PMID:7987297 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 698_756 407.6666666666667 1179.0 retained Alternative sequence ID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 698_756 407.6666666666667 1179.0 retained Alternative sequence ID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 698_756 407.6666666666667 1179.0 retained Alternative sequence ID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 828_828 407.6666666666667 1179.0 retained Alternative sequence ID=VSP_009958;Note=In isoform 2. L->LVTGWMPYLGPRVLMTCLDIGVVCMPTDIQSTSPASIKKFKE;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.8 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 375_375 407.6666666666667 1179.0 not_retained Natural variant ID=VAR_083554;Note=In LIWAS%3B loss of voltage-gated potassium channel activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31152168;Dbxref=dbSNP:rs1554829003,PMID:31152168 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 434_434 407.6666666666667 1179.0 retained Natural variant ID=VAR_023821;Note=In PNKD3%3B may have a synergistic effect with ethanol in the triggering of symptoms. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15937479;Dbxref=dbSNP:rs137853333,PMID:15937479 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 458_1236 407.6666666666667 1179.0 retained Natural variant ID=VAR_083555;Note=In CADEDS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29545233;Dbxref=PMID:29545233 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 518_518 407.6666666666667 1179.0 retained Natural variant ID=VAR_083204;Note=Found in a patient with epileptic encephalopathy%3B unknown pathological significance%3B no effect on voltage-dependent sensitivity. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs201996416,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 656_656 407.6666666666667 1179.0 retained Natural variant ID=VAR_083205;Note=Found in a patient with epilepsy%3B unknown pathological significance%3B no effect on voltage-dependent sensitivity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs917980352,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 884_884 407.6666666666667 1179.0 retained Natural variant ID=VAR_079156;Note=In PNKD3. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26195193;Dbxref=PMID:26195193 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1053_1053 407.6666666666667 1179.0 retained Natural variant ID=VAR_079157;Note=In PNKD3 and EIG16%3B increased sensitivity to voltage-dependent activation resulting in increased channel activity%3B no change in calcium sensitivity. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26195193,ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs886039469,PMID:26195193,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1217_1217 407.6666666666667 1179.0 retained Natural variant ID=VAR_083206;Note=Found in patient with epilepsy%3B unknown pathological significance. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29330545;Dbxref=dbSNP:rs563967757,PMID:29330545 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 118_118 407.6666666666667 1179.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 119_119 407.6666666666667 1179.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-118 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 121_121 407.6666666666667 1179.0 not_retained Mutagenesis Note=Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane%3B when associated with A-119 and A-121. C->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20693285,ECO:0000269|PubMed:22399288;Dbxref=PMID:20693285,PMID:22399288 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 269_269 407.6666666666667 1179.0 not_retained Mutagenesis Note=No effect in the coupling between calcium and channel opening. L->R%2CH;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 272_272 407.6666666666667 1179.0 not_retained Mutagenesis Note=Induces reduction in the coupling between calcium and channel opening. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 275_275 407.6666666666667 1179.0 not_retained Mutagenesis Note=Induces reduction in the coupling between calcium and channel opening. R->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 278_278 407.6666666666667 1179.0 not_retained Mutagenesis Note=Induces reduction in the coupling between calcium and channel opening. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 281_281 407.6666666666667 1179.0 not_retained Mutagenesis Note=No effect in the coupling between calcium and channel opening. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 284_284 407.6666666666667 1179.0 not_retained Mutagenesis Note=No effect in the coupling between calcium and channel opening. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829973;Dbxref=PMID:9829973 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 352_352 407.6666666666667 1179.0 not_retained Mutagenesis Note=Activated at more negative voltages. Slower rate of inactivation. Impaired inhibition by HMIMP. No effect on channel inhibition by Iberiotoxin. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 354_356 407.6666666666667 1179.0 not_retained Mutagenesis Note=Loss of function. GYG->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11604135;Dbxref=PMID:11604135 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 380_380 407.6666666666667 1179.0 not_retained Mutagenesis Note=Loss of function. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 381_381 407.6666666666667 1179.0 not_retained Mutagenesis Note=Activated at more negative voltages. No effect on inhibition by HMIMP. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 384_384 407.6666666666667 1179.0 not_retained Mutagenesis Note=No effect on activation voltage. No effect on inhibition by HMIMP. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20430843;Dbxref=PMID:20430843 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 680_680 407.6666666666667 1179.0 retained Mutagenesis Note=Loss of heme-induced channel inhibition. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14523450;Dbxref=PMID:14523450 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 681_681 407.6666666666667 1179.0 retained Mutagenesis Note=Loss of heme-induced channel inhibition. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14523450;Dbxref=PMID:14523450 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 25_25 407.6666666666667 1179.0 not_retained Sequence conflict Note=M->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 35_35 407.6666666666667 1179.0 not_retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 38_38 407.6666666666667 1179.0 not_retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 449_449 407.6666666666667 1179.0 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 805_805 407.6666666666667 1179.0 retained Sequence conflict Note=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1152_1152 407.6666666666667 1179.0 retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 87_111 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 112_118 407.6666666666667 1179.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 159_170 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 175_198 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 203_206 407.6666666666667 1179.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 209_211 407.6666666666667 1179.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 213_235 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 239_243 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 246_264 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 266_268 407.6666666666667 1179.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 272_281 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 282_287 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 288_290 407.6666666666667 1179.0 not_retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 295_323 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 327_329 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 339_350 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 356_358 407.6666666666667 1179.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 363_390 407.6666666666667 1179.0 not_retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 392_395 407.6666666666667 1179.0 not_retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6ND0 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 409_415 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 418_431 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 435_437 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 439_446 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 453_459 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 463_468 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 470_472 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 473_478 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 481_483 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 485_490 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 498_515 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 521_527 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 528_531 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 532_536 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 537_539 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V35 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 542_544 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 547_550 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 551_564 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 568_574 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 586_588 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3MT5 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 589_597 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 600_605 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 608_610 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 615_626 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 629_634 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 638_640 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 644_647 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 650_653 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 659_665 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 667_670 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 672_675 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 678_681 407.6666666666667 1179.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6ND0 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 685_689 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 803_805 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3MT5 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 813_816 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 823_825 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 830_835 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 842_847 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 850_852 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 858_861 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 863_865 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 867_869 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 871_873 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 877_881 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 883_889 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 890_892 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 893_895 407.6666666666667 1179.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 896_904 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 909_914 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 917_919 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 921_927 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 930_932 407.6666666666667 1179.0 retained Turn Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 936_938 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 941_952 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 994_996 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1001_1007 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1008_1013 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1016_1018 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1026_1028 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1030_1033 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1036_1039 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1040_1044 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1045_1052 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1055_1065 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1074_1079 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1089_1093 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1094_1096 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V22 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1099_1104 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1106_1108 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1111_1114 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1119_1130 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1133_1140 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1141_1143 407.6666666666667 1179.0 retained Helix Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V35 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1144_1146 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:3NAF Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1154_1159 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000286627 Q12791 8 27 1171_1176 407.6666666666667 1179.0 retained Beta strand Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:6V5A Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 1_1236 407.6666666666667 1220.0 not_retained Chain ID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 1_86 407.6666666666667 1220.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 87_107 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S0;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 108_178 407.6666666666667 1220.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 179_199 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 200_214 407.6666666666667 1220.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 215_235 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 236_239 407.6666666666667 1220.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 240_260 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 261_264 407.6666666666667 1220.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 265_285 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 286_300 407.6666666666667 1220.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 301_321 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 322_335 407.6666666666667 1220.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 336_358 407.6666666666667 1220.0 not_retained Intramembrane Note=Pore-forming%3B Name%3DP region;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 359_367 407.6666666666667 1220.0 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 368_388 407.6666666666667 1220.0 not_retained Transmembrane Note=Helical%3B Name%3DSegment S6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 389_1236 407.6666666666667 1220.0 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 415_558 407.6666666666667 1220.0 retained Domain Note=RCK N-terminal Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 556_576 407.6666666666667 1220.0 retained Region Note=Segment S7 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 613_633 407.6666666666667 1220.0 retained Region Note=Segment S8 Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 677_681 407.6666666666667 1220.0 retained Region Note=Heme-binding motif Tgene ABCA1 chr9:107665894 - KCNMA1 chr10:78850268 ENST00000404857 Q12791 8 28 837_857 407.6666