##gff-version 3 Q9Y276 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:25944712;Dbxref=PMID:25944712 Q9Y276 UniProtKB Chain 2 419 . . . ID=PRO_0000084772;Note=Mitochondrial chaperone BCS1 Q9Y276 UniProtKB Topological domain 2 15 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y276 UniProtKB Transmembrane 16 32 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y276 UniProtKB Topological domain 33 419 . . . Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y276 UniProtKB Binding site 230 237 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y276 UniProtKB Modified residue 181 181 . . . Note=Phosphotyrosine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q9Y276 UniProtKB Natural variant 35 35 . . . ID=VAR_032086;Note=In BJS%3B with mild mitochondrial complex III deficiency. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs121908579,PMID:17314340 Q9Y276 UniProtKB Natural variant 45 45 . . . ID=VAR_032087;Note=In MC3DN1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12910490;Dbxref=dbSNP:rs121908575,PMID:12910490 Q9Y276 UniProtKB Natural variant 50 50 . . . ID=VAR_064615;Note=In MC3DN1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19162478;Dbxref=dbSNP:rs121908580,PMID:19162478 Q9Y276 UniProtKB Natural variant 73 73 . . . ID=VAR_064616;Note=In MC3DN1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17403714;Dbxref=dbSNP:rs140812286,PMID:17403714 Q9Y276 UniProtKB Natural variant 78 78 . . . ID=VAR_018149;Note=In GRACILE. S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12215968,ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs28937590,PMID:12215968,PMID:17314340 Q9Y276 UniProtKB Natural variant 99 99 . . . ID=VAR_018159;Note=In MC3DN1. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11528392,ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs121908572,PMID:11528392,PMID:17314340 Q9Y276 UniProtKB Natural variant 114 114 . . . ID=VAR_032088;Note=In BJS. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs778769841,PMID:17314340 Q9Y276 UniProtKB Natural variant 129 129 . . . ID=VAR_072243;Note=In MC3DN1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22991165;Dbxref=dbSNP:rs1057521059,PMID:22991165 Q9Y276 UniProtKB Natural variant 144 144 . . . ID=VAR_018160;Note=In GRACILE. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12215968,ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs386833857,PMID:12215968,PMID:17314340 Q9Y276 UniProtKB Natural variant 155 155 . . . ID=VAR_018161;Note=In MC3DN1%3B abolishes interaction with LETM1. R->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11528392,ECO:0000269|PubMed:17314340,ECO:0000269|PubMed:18628306;Dbxref=dbSNP:rs121908573,PMID:11528392,PMID:17314340,PMID:18628306 Q9Y276 UniProtKB Natural variant 183 183 . . . ID=VAR_064617;Note=In MC3DN1%3B causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17403714;Dbxref=dbSNP:rs144885874,PMID:17403714 Q9Y276 UniProtKB Natural variant 183 183 . . . ID=VAR_032089;Note=In BJS. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs121908577,PMID:17314340 Q9Y276 UniProtKB Natural variant 184 184 . . . ID=VAR_032090;Note=In MC3DN1 and BJS%3B with mild mitochondrial complex III deficiency%3B causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17314340,ECO:0000269|PubMed:17403714;Dbxref=dbSNP:rs121908578,PMID:17314340,PMID:17403714 Q9Y276 UniProtKB Natural variant 277 277 . . . ID=VAR_018162;Note=In MC3DN1. S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11528392,ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs121908571,PMID:11528392,PMID:17314340 Q9Y276 UniProtKB Natural variant 301 301 . . . ID=VAR_072244;Note=In BJS. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24172246;Dbxref=dbSNP:rs587777278,PMID:24172246 Q9Y276 UniProtKB Natural variant 302 302 . . . ID=VAR_032091;Note=In BJS. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs1457171169,PMID:17314340 Q9Y276 UniProtKB Natural variant 306 306 . . . ID=VAR_032092;Note=In BJS. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs1280810181,PMID:17314340 Q9Y276 UniProtKB Natural variant 327 327 . . . ID=VAR_018163;Note=In GRACILE. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12215968,ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs386833858,PMID:12215968,PMID:17314340 Q9Y276 UniProtKB Natural variant 353 353 . . . ID=VAR_018164;Note=In MC3DN1. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11528392,ECO:0000269|PubMed:17314340;Dbxref=dbSNP:rs121908574,PMID:11528392,PMID:17314340 Q9Y276 UniProtKB Natural variant 368 368 . . . ID=VAR_064618;Note=In MC3DN1. F->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17403714;Dbxref=PMID:17403714 Q9Y276 UniProtKB Sequence conflict 394 394 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305