##gff-version 3 Q96H96 UniProtKB Transit peptide 1 34 . . . Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Chain 35 371 . . . ID=PRO_0000228623;Note=4-hydroxybenzoate polyprenyltransferase%2C mitochondrial;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 35 83 . . . Note=Mitochondrial matrix;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 84 104 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 105 108 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 109 129 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 130 148 . . . Note=Mitochondrial matrix;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 149 169 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 170 172 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 173 193 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 194 203 . . . Note=Mitochondrial matrix;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 204 224 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 225 231 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 232 252 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 253 277 . . . Note=Mitochondrial matrix;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 278 298 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 299 300 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 301 321 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 322 332 . . . Note=Mitochondrial matrix;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Transmembrane 333 353 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03189 Q96H96 UniProtKB Topological domain 354 371 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Alternative sequence 1 1 . . . ID=VSP_061606;Note=In isoform 4. M->MTPISQVRMRKGSAHTAAQPGRLGLHPAGATAHACRGMTSIRARPGLTSAM;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Alternative sequence 1 1 . . . ID=VSP_061607;Note=In isoform 5. M->MRKGSAHTAAQPGRLGLHPAGATAHACRGMTSIRARPGLTSAM;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Alternative sequence 1 1 . . . ID=VSP_061608;Note=In isoform 6. M->MTSIRARPGLTSAM;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27493029;Dbxref=PMID:27493029 Q96H96 UniProtKB Alternative sequence 318 334 . . . ID=VSP_017677;Note=In isoform 3. IYTLDIHRPEDCWNKFI->KWGLEILPRLV;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|Ref.5,ECO:0000303|Ref.6 Q96H96 UniProtKB Alternative sequence 335 371 . . . ID=VSP_017678;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|Ref.5,ECO:0000303|Ref.6 Q96H96 UniProtKB Natural variant 16 16 . . . ID=VAR_070237;Note=V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15153069,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs6818847,PMID:15153069,PMID:15489334,PMID:23758206 Q96H96 UniProtKB Natural variant 22 22 . . . ID=VAR_070238;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=PMID:23758206 Q96H96 UniProtKB Natural variant 29 29 . . . ID=VAR_070239;Note=In MSA1%3B associated with disease susceptibility. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs863223933,PMID:23758206 Q96H96 UniProtKB Natural variant 49 49 . . . ID=VAR_070240;Note=In MSA1%3B associated with disease susceptibility. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs936872920,PMID:23758206 Q96H96 UniProtKB Natural variant 57 57 . . . ID=VAR_070241;Note=In MSA1%3B associated with disease susceptibility. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs550949678,PMID:23758206 Q96H96 UniProtKB Natural variant 69 69 . . . ID=VAR_070242;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs762399579,PMID:23758206 Q96H96 UniProtKB Natural variant 78 78 . . . ID=VAR_070243;Note=In MSA1%3B associated with disease susceptibility%3B decreased ubiquinone biosynthesis. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23758206,ECO:0000269|PubMed:27493029;Dbxref=dbSNP:rs778094136,PMID:23758206,PMID:27493029 Q96H96 UniProtKB Natural variant 96 96 . . . ID=VAR_068161;Note=In COQ10D1%3B decreased ubiquinone biosynthesis. S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17855635,ECO:0000269|PubMed:27493029;Dbxref=dbSNP:rs121918233,PMID:17855635,PMID:27493029 Q96H96 UniProtKB Natural variant 97 97 . . . ID=VAR_070244;Note=In MSA1%3B associated with disease susceptibility. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs944546272,PMID:23758206 Q96H96 UniProtKB Natural variant 107 107 . . . ID=VAR_070245;Note=In MSA1%3B associated with disease susceptibility. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs1462568548,PMID:23758206 Q96H96 UniProtKB Natural variant 113 113 . . . ID=VAR_070246;Note=In MSA1%3B associated with disease susceptibility. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=PMID:23758206 Q96H96 UniProtKB Natural variant 132 132 . . . ID=VAR_076913;Note=In COQ10D1%3B decreased ubiquinone biosynthesis. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25564041,ECO:0000269|PubMed:27493029;Dbxref=PMID:25564041,PMID:27493029 Q96H96 UniProtKB Natural variant 147 147 . . . ID=VAR_068162;Note=In COQ10D1%3B loss of ubiquinone biosynthesis. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17855635,ECO:0000269|PubMed:27493029;Dbxref=dbSNP:rs121918231,PMID:17855635,PMID:27493029 Q96H96 UniProtKB Natural variant 178 178 . . . ID=VAR_068163;Note=In COQ10D1%3B decreased ubiquinone biosynthesis. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17855635,ECO:0000269|PubMed:27493029;Dbxref=dbSNP:rs121918232,PMID:17855635,PMID:27493029 Q96H96 UniProtKB Natural variant 247 247 . . . ID=VAR_025701;Note=In COQ10D1%3B decreased 4-hydroxybenzoate decaprenyltransferase activity. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16400613,ECO:0000269|PubMed:17374725,ECO:0000269|PubMed:17855635,ECO:0000269|PubMed:27493029;Dbxref=dbSNP:rs121918230,PMID:16400613,PMID:17374725,PMID:17855635,PMID:27493029 Q96H96 UniProtKB Natural variant 252 252 . . . ID=VAR_076914;Note=In COQ10D1%3B loss of ubiquinone biosynthesis. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23343605,ECO:0000269|PubMed:27493029;Dbxref=dbSNP:rs762616589,PMID:23343605,PMID:27493029 Q96H96 UniProtKB Natural variant 267 267 . . . ID=VAR_070247;Note=In MSA1%3B associated with disease susceptibility. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs369627290,PMID:23758206 Q96H96 UniProtKB Natural variant 297 297 . . . ID=VAR_070248;Note=In MSA1%3B associated with disease susceptibility. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=PMID:23758206 Q96H96 UniProtKB Natural variant 336 336 . . . ID=VAR_070249;Note=N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=PMID:23758206 Q96H96 UniProtKB Natural variant 337 337 . . . ID=VAR_070250;Note=In MSA1%3B associated with disease susceptibility. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs763562410,PMID:23758206 Q96H96 UniProtKB Natural variant 340 340 . . . ID=VAR_078121;Note=In COQ10D1%3B uncertain significance. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28044327;Dbxref=dbSNP:rs752608037,PMID:28044327 Q96H96 UniProtKB Natural variant 343 343 . . . ID=VAR_070251;Note=In MSA1%3B associated with disease susceptibility. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23758206;Dbxref=dbSNP:rs148156462,PMID:23758206