##gff-version 3 Q9UKB3 UniProtKB Chain 1 198 . . . ID=PRO_0000071066;Note=DnaJ homolog subfamily C member 12 Q9UKB3 UniProtKB Domain 14 79 . . . Note=J;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00286 Q9UKB3 UniProtKB Region 114 169 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UKB3 UniProtKB Compositional bias 114 156 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UKB3 UniProtKB Modified residue 1 1 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q9UKB3 UniProtKB Modified residue 160 160 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q9UKB3 UniProtKB Modified residue 166 166 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R022 Q9UKB3 UniProtKB Modified residue 182 182 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R022 Q9UKB3 UniProtKB Alternative sequence 100 107 . . . ID=VSP_001295;Note=In isoform B. SMHWVVRG->VGFSLGAT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10760603;Dbxref=PMID:10760603 Q9UKB3 UniProtKB Alternative sequence 108 198 . . . ID=VSP_001296;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10760603;Dbxref=PMID:10760603 Q9UKB3 UniProtKB Natural variant 62 62 . . . ID=VAR_090211;Note=In HPANBH4%3B likely pathogenic. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:39584997;Dbxref=PMID:39584997 Q9UKB3 UniProtKB Natural variant 72 198 . . . ID=VAR_090212;Note=In HPANBH4%3B likely pathogenic. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28794131,ECO:0000269|PubMed:39584997;Dbxref=PMID:28794131,PMID:39584997 Q9UKB3 UniProtKB Natural variant 72 72 . . . ID=VAR_078797;Note=In HPANBH4%3B uncertain significance%3B decreased protein levels in homozygous patient cells%3B probably affects PAH stability%3B PAH activity is reduced in homozygous patient cells. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28132689;Dbxref=dbSNP:rs1035794099,PMID:28132689 Q9UKB3 UniProtKB Natural variant 79 198 . . . ID=VAR_090213;Note=In HPANBH4%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:38248634;Dbxref=PMID:38248634 Q9UKB3 UniProtKB Natural variant 102 102 . . . ID=VAR_090214;Note=In HPANBH4%3B uncertain significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32519510;Dbxref=dbSNP:rs1373961824,PMID:32519510 Q9UKB3 UniProtKB Natural variant 103 103 . . . ID=VAR_090215;Note=In HPANBH4%3B likely pathogenic. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32333439;Dbxref=dbSNP:rs1841794635,PMID:32333439 Q9UKB3 UniProtKB Natural variant 124 124 . . . ID=VAR_048913;Note=M->I;Dbxref=dbSNP:rs35690028 Q9UKB3 UniProtKB Natural variant 129 129 . . . ID=VAR_048914;Note=C->W;Dbxref=dbSNP:rs36099123 Q9UKB3 UniProtKB Natural variant 175 198 . . . ID=VAR_090216;Note=In HPANBH4%3B likely pathogenic%3B decreased mRNA and protein levels in homozygous patient cells%3B probably affects PAH stability%3B PAH levels and activity are severely reduced in homozygous patient cells. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32333439;Dbxref=PMID:32333439 Q9UKB3 UniProtKB Helix 15 18 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CTQ Q9UKB3 UniProtKB Helix 27 39 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CTQ Q9UKB3 UniProtKB Turn 43 45 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CTQ Q9UKB3 UniProtKB Helix 52 67 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CTQ Q9UKB3 UniProtKB Helix 69 81 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CTQ Q9UKB3 UniProtKB Helix 87 95 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CTQ