Variant position: 183 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 EWFDWILRNMDVSVDLIVYL RTNPETCYQRLKKRCREEEKV
Mouse EWFDWIVRNIDVSVDLIVYL RTTPEICYQRLKMRCREEEKV
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
201 – 201 Substrate
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.
Tulinius M.; Moslemi A.-R.; Darin N.; Holme E.; Oldfors A.;
Neuromuscul. Disord. 15:412-415(2005)
Cited for: VARIANTS MTDPS2 MET-64 AND TRP-183;
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Tyynismaa H.; Sun R.; Ahola-Erkkilae S.; Almusa H.; Poeyhoenen R.; Korpela M.; Honkaniemi J.; Isohanni P.; Paetau A.; Wang L.; Suomalainen A.;
Hum. Mol. Genet. 21:66-75(2012)
Cited for: INVOLVEMENT IN PEOB3; VARIANTS PEOB3 TRP-183 AND ALA-188; CHARACTERIZATION OF VARIANTS PEOB3 TRP-183 AND ALA-188; SUBUNIT;
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