##gff-version 3 P03891 UniProtKB Chain 1 347 . . . ID=PRO_0000117595;Note=NADH-ubiquinone oxidoreductase chain 2 P03891 UniProtKB Transmembrane 13 33 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 56 76 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 96 116 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 123 143 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 149 169 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 178 198 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 201 221 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 247 267 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 274 294 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Transmembrane 326 346 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P03891 UniProtKB Natural variant 42 42 . . . ID=VAR_008590;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=PMID:1757091 P03891 UniProtKB Natural variant 43 43 . . . ID=VAR_011348;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7530363;Dbxref=dbSNP:rs1117207,PMID:7530363 P03891 UniProtKB Natural variant 57 57 . . . ID=VAR_008591;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9461455;Dbxref=dbSNP:rs41510547,PMID:9461455 P03891 UniProtKB Natural variant 63 63 . . . ID=VAR_008592;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=PMID:1757091 P03891 UniProtKB Natural variant 69 69 . . . ID=VAR_011349;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs1556422884,PMID:9475751 P03891 UniProtKB Natural variant 71 71 . . . ID=VAR_084383;Note=In LS%3B uncertain significance%3B decrease in enzyme activity and impaired assembly of complex I. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16996290;Dbxref=dbSNP:rs267606889,PMID:16996290 P03891 UniProtKB Natural variant 88 88 . . . ID=VAR_011350;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs201854167,PMID:9475751 P03891 UniProtKB Natural variant 119 119 . . . ID=VAR_008593;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=dbSNP:rs1556422903,PMID:1757091 P03891 UniProtKB Natural variant 148 148 . . . ID=VAR_008594;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=PMID:1757091 P03891 UniProtKB Natural variant 150 150 . . . ID=VAR_004755;Note=In LHON%3B secondary mutation%3B does not seem to directly cause the disease. N->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1900003,ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs28357980,PMID:1900003,PMID:9475751 P03891 UniProtKB Natural variant 150 150 . . . ID=VAR_008595;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=dbSNP:rs879058895,PMID:1757091 P03891 UniProtKB Natural variant 159 159 . . . ID=VAR_008596;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=PMID:1757091 P03891 UniProtKB Natural variant 185 185 . . . ID=VAR_008597;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1757091;Dbxref=PMID:1757091 P03891 UniProtKB Natural variant 237 237 . . . ID=VAR_011351;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs28357984,PMID:9475751 P03891 UniProtKB Natural variant 259 259 . . . ID=VAR_004756;Note=In LHON%3B rare primary mutation. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1732158;Dbxref=dbSNP:rs199476115,PMID:1732158 P03891 UniProtKB Natural variant 265 265 . . . ID=VAR_011352;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs1603219855,PMID:9475751 P03891 UniProtKB Natural variant 265 265 . . . ID=VAR_011353;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs41320049,PMID:9475751 P03891 UniProtKB Natural variant 278 278 . . . ID=VAR_011354;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs878853115,PMID:9475751 P03891 UniProtKB Natural variant 325 325 . . . ID=VAR_011355;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7530363;Dbxref=dbSNP:rs3020601,PMID:7530363 P03891 UniProtKB Natural variant 331 331 . . . ID=VAR_004758;Note=In AD-MT. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1370613;Dbxref=PMID:1370613 P03891 UniProtKB Natural variant 331 331 . . . ID=VAR_004757;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7530363;Dbxref=dbSNP:rs3021088,PMID:7530363 P03891 UniProtKB Natural variant 333 333 . . . ID=VAR_011356;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9475751;Dbxref=dbSNP:rs1603219973,PMID:9475751