##gff-version 3 O00142 UniProtKB Transit peptide 1 33 . . . Note=Mitochondrion;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9989599;Dbxref=PMID:9989599 O00142 UniProtKB Chain 34 265 . . . ID=PRO_0000016842;Note=Thymidine kinase 2%2C mitochondrial O00142 UniProtKB Region 20 47 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00142 UniProtKB Active site 133 133 . . . Note=Proton acceptor;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O57203 O00142 UniProtKB Binding site 57 65 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O57203 O00142 UniProtKB Alternative sequence 1 97 . . . ID=VSP_054606;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 O00142 UniProtKB Alternative sequence 1 41 . . . ID=VSP_003028;Note=In isoform 2. MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPP->MGAFCQRPSS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9079672;Dbxref=PMID:9079672 O00142 UniProtKB Alternative sequence 1 1 . . . ID=VSP_058694;Note=In isoform 6. M->MRPGLFKGQAPGSRRRPTAGLAVVRADSHKKEPRASGSARPAM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:20843780;Dbxref=PMID:20843780 O00142 UniProtKB Alternative sequence 53 77 . . . ID=VSP_043503;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 O00142 UniProtKB Alternative sequence 78 95 . . . ID=VSP_044459;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 O00142 UniProtKB Natural variant 53 53 . . . ID=VAR_019419;Note=In MTDPS2. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12391347;Dbxref=dbSNP:rs137854432,PMID:12391347 O00142 UniProtKB Natural variant 64 64 . . . ID=VAR_023790;Note=In MTDPS2. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15907288;Dbxref=dbSNP:rs281865487,PMID:15907288 O00142 UniProtKB Natural variant 108 108 . . . ID=VAR_019420;Note=In MTDPS2%3B reduction of activity. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12391347,ECO:0000269|PubMed:15639197;Dbxref=dbSNP:rs137854431,PMID:12391347,PMID:15639197 O00142 UniProtKB Natural variant 117 117 . . . ID=VAR_072789;Note=In MTDPS2%3B severe form of combined brain and muscular atrophy%3B depletion of mtDNA in skeletal muscle%3B normal residual mtDNA in blood and fibroblasts. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25446393;Dbxref=PMID:25446393 O00142 UniProtKB Natural variant 121 121 . . . ID=VAR_019421;Note=In MTDPS2%3B reduction of activity in muscles. H->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11687801,ECO:0000269|PubMed:12391347;Dbxref=dbSNP:rs137854429,PMID:11687801,PMID:12391347 O00142 UniProtKB Natural variant 139 139 . . . ID=VAR_072790;Note=In MTDPS2%3B severe form of combined brain and muscular atrophy%3B depletion of mtDNA in skeletal muscle%3B normal residual mtDNA in blood and fibroblasts. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25446393;Dbxref=dbSNP:rs281865494,PMID:25446393 O00142 UniProtKB Natural variant 183 183 . . . ID=VAR_023791;Note=In MTDPS2 and PEOB3%3B reduction of activity%3B reduced affinity for ATP. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15907288,ECO:0000269|PubMed:21937588;Dbxref=dbSNP:rs137886900,PMID:15907288,PMID:21937588 O00142 UniProtKB Natural variant 188 188 . . . ID=VAR_076984;Note=In PEOB3%3B reduction of activity%3B reduced affinity for ATP. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21937588;Dbxref=dbSNP:rs281865495,PMID:21937588 O00142 UniProtKB Natural variant 192 192 . . . ID=VAR_023792;Note=In MTDPS2%3B reduction of activity. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15639197;Dbxref=dbSNP:rs281865496,PMID:15639197 O00142 UniProtKB Natural variant 212 212 . . . ID=VAR_019422;Note=In MTDPS2%3B reduction of activity in muscles. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11687801;Dbxref=dbSNP:rs137854430,PMID:11687801 O00142 UniProtKB Sequence conflict 37 37 . . . Note=R->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00142 UniProtKB Sequence conflict 49 49 . . . Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00142 UniProtKB Sequence conflict 61 61 . . . Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00142 UniProtKB Sequence conflict 206 206 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00142 UniProtKB Sequence conflict 238 238 . . . Note=D->DH;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00142 UniProtKB Sequence conflict 241 241 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00142 UniProtKB Sequence conflict 251 251 . . . Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305