##gff-version 3 P27539 UniProtKB Signal peptide 1 29 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P27539 UniProtKB Propeptide 30 253 . . . ID=PRO_0000033898;Ontology_term=ECO:0000255;evidence=ECO:0000255 P27539 UniProtKB Chain 254 372 . . . ID=PRO_0000033899;Note=Embryonic growth/differentiation factor 1 P27539 UniProtKB Region 67 86 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P27539 UniProtKB Glycosylation 206 206 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P27539 UniProtKB Disulfide bond 267 337 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P27539 UniProtKB Disulfide bond 296 369 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P27539 UniProtKB Disulfide bond 300 371 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P27539 UniProtKB Disulfide bond 336 336 . . . Note=Interchain;Ontology_term=ECO:0000250;evidence=ECO:0000250 P27539 UniProtKB Natural variant 68 68 . . . ID=VAR_065332;Note=Found in a patient with atrioventricular canal-cleft mitral valve%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=dbSNP:rs763822282,PMID:17924340 P27539 UniProtKB Natural variant 118 118 . . . ID=VAR_028274;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2034669;Dbxref=dbSNP:rs4808863,PMID:2034669 P27539 UniProtKB Natural variant 162 162 . . . ID=VAR_065333;Note=In TOF. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=dbSNP:rs121434424,PMID:17924340 P27539 UniProtKB Natural variant 227 372 . . . ID=VAR_080779;Note=In CHTD6 and RAI. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924340,ECO:0000269|PubMed:20413652,ECO:0000269|PubMed:28991257;Dbxref=PMID:17924340,PMID:20413652,PMID:28991257 P27539 UniProtKB Natural variant 262 262 . . . ID=VAR_065334;Note=In a patient with Rastelli type atrioventricular canal. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=PMID:17924340 P27539 UniProtKB Natural variant 267 267 . . . ID=VAR_065335;Note=In CTHM%3B double-outlet right ventricle. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=dbSNP:rs121434423,PMID:17924340 P27539 UniProtKB Natural variant 309 309 . . . ID=VAR_065336;Note=In TOF. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=dbSNP:rs864622513,PMID:17924340 P27539 UniProtKB Natural variant 312 312 . . . ID=VAR_065337;Note=In TOF. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=PMID:17924340 P27539 UniProtKB Natural variant 318 318 . . . ID=VAR_065338;Note=In CHTD6. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924340;Dbxref=dbSNP:rs1064793138,PMID:17924340 P27539 UniProtKB Natural variant 364 364 . . . ID=VAR_080780;Note=In CHTD6. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28991257;Dbxref=dbSNP:rs374016704,PMID:28991257 P27539 UniProtKB Natural variant 364 364 . . . ID=VAR_080781;Note=In RAI. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28991257;Dbxref=dbSNP:rs753643819,PMID:28991257