Variant position: 108 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 265 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NVRGHNPLGLMYHDASRWGL TLQTYVQLTMLDRHTRPQVSS
Mouse NVHGHNPLSLMYHDASRWGL TLQTYVQLTMLDQHTRPQMSP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
34 – 265 Thymidine kinase 2, mitochondrial
99 – 99 Substrate
110 – 110 Substrate
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Mancuso M.; Salviati L.; Sacconi S.; Otaegui D.; Camano P.; Marina A.; Bacman S.; Moraes C.T.; Carlo J.R.; Garcia M.; Garcia-Alvarez M.; Monzon L.; Naini A.B.; Hirano M.; Bonilla E.; Taratuto A.L.; DiMauro S.; Vu T.H.;
Cited for: VARIANTS MTDPS2 MET-53; MET-108 AND ASN-121;
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Wang L.; Limongelli A.; Vila M.R.; Carrara F.; Zeviani M.; Eriksson S.;
Mol. Genet. Metab. 84:75-82(2005)
Cited for: VARIANTS MTDPS2 MET-108 AND LYS-192; CHARACTERIZATION OF VARIANTS MTDPS2 MET-108 AND LYS-192;
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