##gff-version 3 P61457 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8444860;Dbxref=PMID:8444860 P61457 UniProtKB Chain 2 104 . . . ID=PRO_0000063052;Note=Pterin-4-alpha-carbinolamine dehydratase P61457 UniProtKB Binding site 61 63 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P61457 UniProtKB Binding site 78 81 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P61457 UniProtKB Modified residue 2 2 . . . Note=N-acetylalanine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8444860;Dbxref=PMID:8444860 P61457 UniProtKB Natural variant 27 104 . . . ID=VAR_084829;Note=In HPABH4D%3B reduced protein levels%3B loss of HNF1B interaction%3B loss of HNF1B-coactivator activity. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:9760199;Dbxref=dbSNP:rs727505360,PMID:24204001,PMID:9760199 P61457 UniProtKB Natural variant 79 79 . . . ID=VAR_005527;Note=In HPABH4D%3B increased proteolytic degradation%3B reduced interaction with HNF1B%3B loss of HNF1B-coactivator activity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:9585615;Dbxref=dbSNP:rs121913014,PMID:24204001,PMID:9585615 P61457 UniProtKB Natural variant 82 82 . . . ID=VAR_005528;Note=In HPABH4D%3B increased proteolytic degradation%3B reduced dehydratase activity%3B no impact on hydroxytetrahydrobiopterin-binding%3B reduced interaction with HNF1B%3B partial impact on HNF1B-coactivator activity. C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:8352282,ECO:0000269|PubMed:8618906;Dbxref=dbSNP:rs104894177,PMID:24204001,PMID:8352282,PMID:8618906 P61457 UniProtKB Natural variant 87 104 . . . ID=VAR_084830;Note=In HPABH4D%3B increased proteolytic degradation%3B loss of HNF1B interaction%3B loss of HNF1B-coactivator activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:8352282,ECO:0000269|PubMed:9585615;Dbxref=dbSNP:rs104894172,PMID:24204001,PMID:8352282,PMID:9585615 P61457 UniProtKB Natural variant 88 88 . . . ID=VAR_005529;Note=No impact on HNF1B interaction%3B no impact on HNF1B-coactivator activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:9760199;Dbxref=dbSNP:rs115117837,PMID:24204001,PMID:9760199 P61457 UniProtKB Natural variant 97 97 . . . ID=VAR_005530;Note=In HPABH4D%3B increased proteolytic degradation%3B loss of HNF1B interaction%3B loss of HNF1B-coactivator activity. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:9760199;Dbxref=dbSNP:rs397518416,PMID:24204001,PMID:9760199 P61457 UniProtKB Natural variant 98 104 . . . ID=VAR_084831;Note=In HPABH4D%3B increased proteolytic degradation%3B loss of HNF1B interaction%3B loss of HNF1B-coactivator activity. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24204001,ECO:0000269|PubMed:9585615;Dbxref=dbSNP:rs121913015,PMID:24204001,PMID:9585615