##gff-version 3 Q5T160 UniProtKB Transit peptide 1 16 . . . Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q5T160 UniProtKB Chain 17 578 . . . ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial Q5T160 UniProtKB Motif 133 144 . . . Note='HIGH' region Q5T160 UniProtKB Binding site 133 135 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54136 Q5T160 UniProtKB Binding site 144 144 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54136 Q5T160 UniProtKB Binding site 322 322 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54136 Q5T160 UniProtKB Binding site 326 326 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54136 Q5T160 UniProtKB Binding site 350 350 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54136 Q5T160 UniProtKB Modified residue 568 568 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3U186 Q5T160 UniProtKB Natural variant 10 10 . . . ID=VAR_088506;Note=In PCH6%3B uncertain significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=dbSNP:rs1776518694,PMID:30006346 Q5T160 UniProtKB Natural variant 142 142 . . . ID=VAR_085046;Note=Found in a patient with progressive myoclonus epilepsy and dementia%3B uncertain significance. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33798445;Dbxref=dbSNP:rs761568260,PMID:33798445 Q5T160 UniProtKB Natural variant 291 291 . . . ID=VAR_037800;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17850652,PMID:15489334 Q5T160 UniProtKB Natural variant 315 578 . . . ID=VAR_085047;Note=Found in a patient with progressive myoclonus epilepsy and dementia%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33798445;Dbxref=dbSNP:rs199835443,PMID:33798445 Q5T160 UniProtKB Natural variant 331 331 . . . ID=VAR_037801;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs3757370,PMID:14702039 Q5T160 UniProtKB Natural variant 342 342 . . . ID=VAR_085048;Note=Found in a patient with late onset progressive myoclonus epilepsy%3B uncertain significance. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33798445;Dbxref=dbSNP:rs34647222,PMID:33798445 Q5T160 UniProtKB Natural variant 367 367 . . . ID=VAR_037802;Note=D->G;Dbxref=dbSNP:rs1108758 Q5T160 UniProtKB Natural variant 436 436 . . . ID=VAR_076278;Note=Found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease%3B uncertain significance. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26741492;Dbxref=PMID:26741492 Q5T160 UniProtKB Natural variant 441 441 . . . ID=VAR_076279;Note=Found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease%3B uncertain significance. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26741492;Dbxref=dbSNP:rs2128000762,PMID:26741492 Q5T160 UniProtKB Mutagenesis 9 9 . . . Note=No effect on mitochondrial membrane localization. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 12 12 . . . Note=No effect on mitochondrial membrane localization. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 241 241 . . . Note=No effect on mitochondrial membrane localization. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 245 245 . . . Note=No effect on mitochondrial membrane localization. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 258 258 . . . Note=No effect on mitochondrial membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 283 283 . . . Note=No effect on mitochondrial membrane localization. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 333 333 . . . Note=No effect on mitochondrial membrane localization. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 342 342 . . . Note=No effect on mitochondrial membrane localization. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 404 404 . . . Note=No effect on mitochondrial membrane localization. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 469 469 . . . Note=No effect on mitochondrial membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 478 478 . . . Note=No effect on mitochondrial membrane localization. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Mutagenesis 530 530 . . . Note=No effect on mitochondrial membrane localization. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30006346;Dbxref=PMID:30006346 Q5T160 UniProtKB Sequence conflict 48 48 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q5T160 UniProtKB Sequence conflict 149 149 . . . Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305