##gff-version 3 Q02318 UniProtKB Transit peptide 1 33 . . . Note=Mitochondrion Q02318 UniProtKB Chain 34 531 . . . ID=PRO_0000003618;Note=Sterol 26-hydroxylase%2C mitochondrial Q02318 UniProtKB Region 384 398 . . . Note=Sterol-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02318 UniProtKB Binding site 476 476 . . . Note=Axial binding residue Q02318 UniProtKB Modified residue 283 283 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9DBG1 Q02318 UniProtKB Modified residue 509 509 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9DBG1 Q02318 UniProtKB Modified residue 520 520 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9DBG1 Q02318 UniProtKB Natural variant 145 145 . . . ID=VAR_016966;Note=In CTX. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000359;Dbxref=dbSNP:rs72551313,PMID:12000359 Q02318 UniProtKB Natural variant 169 169 . . . ID=VAR_061046;Note=A->V;Dbxref=dbSNP:rs59443548 Q02318 UniProtKB Natural variant 175 175 . . . ID=VAR_048467;Note=T->M;Dbxref=dbSNP:rs2229381 Q02318 UniProtKB Natural variant 395 395 . . . ID=VAR_001303;Note=In CTX%3B impairs sterol 26-hydroxylase activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2019602;Dbxref=dbSNP:rs121908096,PMID:2019602 Q02318 UniProtKB Natural variant 395 395 . . . ID=VAR_012285;Note=In CTX%3B impairs sterol 26-hydroxylase activity. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9790667;Dbxref=dbSNP:rs121908096,PMID:9790667 Q02318 UniProtKB Natural variant 405 405 . . . ID=VAR_012286;Note=In CTX%3B impairs sterol 26-hydroxylase activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9186905;Dbxref=dbSNP:rs121908099,PMID:9186905 Q02318 UniProtKB Natural variant 474 474 . . . ID=VAR_012287;Note=In CTX%3B impairs sterol 26-hydroxylase activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7915755;Dbxref=dbSNP:rs121908097,PMID:7915755 Q02318 UniProtKB Natural variant 474 474 . . . ID=VAR_012288;Note=In CTX%3B impairs sterol 26-hydroxylase activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7915755;Dbxref=dbSNP:rs121908098,PMID:7915755 Q02318 UniProtKB Natural variant 479 479 . . . ID=VAR_001304;Note=In CTX%3B impairs sterol 26-hydroxylase activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2019602;Dbxref=dbSNP:rs72551322,PMID:2019602 Q02318 UniProtKB Mutagenesis 240 240 . . . Note=Impairs sterol 26-hydroxylase activity%3B when associated with A-244 and A-248. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 240 240 . . . Note=Impairs sterol 26-hydroxylase activity. F->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 244 244 . . . Note=Impairs sterol 26-hydroxylase activity%3B when associated with A-240 and A-248. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 244 244 . . . Note=Impairs sterol 26-hydroxylase activity. I->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 248 248 . . . Note=Impairs sterol 26-hydroxylase activity%3B when associated with A-240 and A-244. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 248 248 . . . Note=Impairs sterol 26-hydroxylase activity%3B confers demethylase activity. F->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 268 268 . . . Note=Reduces sterol 26-hydroxylase activity. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Mutagenesis 271 271 . . . Note=Reduces sterol 26-hydroxylase activity. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11412116;Dbxref=PMID:11412116 Q02318 UniProtKB Sequence conflict 20 25 . . . Note=LCPHGA->SAPTG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02318 UniProtKB Sequence conflict 171 171 . . . Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02318 UniProtKB Sequence conflict 359 359 . . . Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305