##gff-version 3 P53007 UniProtKB Propeptide 1 13 . . . ID=PRO_0000456575;Note=Removed in mature form;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32089 P53007 UniProtKB Chain 14 311 . . . ID=PRO_0000019262;Note=Tricarboxylate transport protein%2C mitochondrial P53007 UniProtKB Transmembrane 29 46 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 P53007 UniProtKB Transmembrane 86 105 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 P53007 UniProtKB Transmembrane 129 143 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 P53007 UniProtKB Transmembrane 183 202 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 P53007 UniProtKB Transmembrane 224 241 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 P53007 UniProtKB Transmembrane 278 297 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 P53007 UniProtKB Repeat 23 111 . . . Note=Solcar 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00282 P53007 UniProtKB Repeat 122 208 . . . Note=Solcar 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00282 P53007 UniProtKB Repeat 218 303 . . . Note=Solcar 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00282 P53007 UniProtKB Modified residue 156 156 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P53007 UniProtKB Natural variant 28 28 . . . ID=VAR_081661;Note=In D2L2AD%3B uncertain significance%3B very mild decrease of citrate transport rates. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29238895;Dbxref=PMID:29238895 P53007 UniProtKB Natural variant 40 40 . . . ID=VAR_081662;Note=In D2L2AD%3B reduced rates of citrate transport. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29238895;Dbxref=PMID:29238895 P53007 UniProtKB Natural variant 45 45 . . . ID=VAR_069490;Note=In D2L2AD%3B severely reduced rates of citrate transport. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:25614306,ECO:0000269|PubMed:29031613;Dbxref=PMID:23561848,PMID:25614306,PMID:29031613 P53007 UniProtKB Natural variant 47 47 . . . ID=VAR_081663;Note=In D2L2AD%3B severely reduced rates of citrate transport. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29238895;Dbxref=dbSNP:rs1555923307,PMID:29238895 P53007 UniProtKB Natural variant 93 93 . . . ID=VAR_081664;Note=In D2L2AD%3B severely reduced rates of citrate transport. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29238895;Dbxref=PMID:29238895 P53007 UniProtKB Natural variant 130 130 . . . ID=VAR_081665;Note=In D2L2AD%3B severely reduced rates of citrate transport. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23393310,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs368647424,PMID:23393310,PMID:29031613 P53007 UniProtKB Natural variant 144 144 . . . ID=VAR_069491;Note=In D2L2AD%3B abolishes citrate transport. E->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29031613;Dbxref=PMID:23561848,PMID:29031613 P53007 UniProtKB Natural variant 167 167 . . . ID=VAR_069492;Note=In D2L2AD. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23561848;Dbxref=PMID:23561848 P53007 UniProtKB Natural variant 193 193 . . . ID=VAR_069493;Note=In D2L2AD%3B reduced rates of citrate transport. S->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29031613,ECO:0000269|PubMed:29238895;Dbxref=dbSNP:rs781925968,PMID:23561848,PMID:29031613,PMID:29238895 P53007 UniProtKB Natural variant 198 198 . . . ID=VAR_077511;Note=In D2L2AD%3B severely reduced rates of citrate transport. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27306203,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs1331417017,PMID:27306203,PMID:29031613 P53007 UniProtKB Natural variant 202 202 . . . ID=VAR_069494;Note=In D2L2AD%3B reduced rates of citrate transport. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs782335811,PMID:23561848,PMID:29031613 P53007 UniProtKB Natural variant 238 238 . . . ID=VAR_081666;Note=In D2L2AD%3B disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29226520;Dbxref=PMID:29226520 P53007 UniProtKB Natural variant 247 247 . . . ID=VAR_081667;Note=In CMS23%3B reduced rates of citrate transport. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26870663,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs781908532,PMID:26870663,PMID:29031613 P53007 UniProtKB Natural variant 256 311 . . . ID=VAR_081668;Note=In D2L2AD%3B no protein detected by Western blot in patient fibroblasts%3B severely reduced rates of citrate transport. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29238895;Dbxref=PMID:23561848,PMID:29238895 P53007 UniProtKB Natural variant 262 262 . . . ID=VAR_081669;Note=In D2L2AD%3B reduced rates of citrate transport. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29238895;Dbxref=PMID:29238895 P53007 UniProtKB Natural variant 282 282 . . . ID=VAR_069495;Note=In D2L2AD%3B abolishes citrate transport. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs431905509,PMID:23561848,PMID:29031613 P53007 UniProtKB Natural variant 282 282 . . . ID=VAR_069496;Note=In D2L2AD%3B abolishes citrate transport. R->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs431905509,PMID:23561848,PMID:29031613 P53007 UniProtKB Natural variant 282 282 . . . ID=VAR_081670;Note=In D2L2AD%3B abolishes citrate transport. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23393310,ECO:0000269|PubMed:29031613;Dbxref=dbSNP:rs431905510,PMID:23393310,PMID:29031613 P53007 UniProtKB Natural variant 297 297 . . . ID=VAR_069497;Note=In D2L2AD%3B reduced rates of citrate transport. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561848,ECO:0000269|PubMed:29031613;Dbxref=PMID:23561848,PMID:29031613 P53007 UniProtKB Sequence conflict 26 26 . . . Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305