Sequence information
Variant position: 121 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:
DASRWGLTLQTYVQLTMLDR
H TRPQVSSVRLMERSIHSARY
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 DASRWGLTLQTYVQLTMLDRH TRPQVSSVRLMERSIHSARY
Mouse DASRWGLTLQTYVQLTMLDQH TRPQMSPVRLMERSIYSARY
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
Chain
34 – 265
Thymidine kinase 2, mitochondrial
Active site
133 – 133
Proton acceptor
Binding site
110 – 110
Substrate
Binding site
134 – 134
Substrate
Literature citations
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
Saada A.; Shaag A.; Mandel H.; Nevo Y.; Eriksson S.; Elpeleg O.;
Nat. Genet. 29:342-344(2001)
Cited for: VARIANTS MTDPS2 ASN-121 AND ASN-212; FUNCTION; CHARACTERIZATION OF VARIANTS MTDPS2 ASN-121 AND ASN-212;
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.;
Neurology 59:1197-1202(2002)
Cited for: VARIANTS MTDPS2 MET-53; MET-108 AND ASN-121;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.