Variant position: 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 362 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 SAPFISQFYKESLMKVMPYV DILFGNETEAATFAREQGFE--T
Mouse SAPFISQFFKEALMDVMPYV DILFGNETEAATFAREQGFE-
Rat SAPFISQFFKEALMEVMPYV DILFGNETEAATFAREQGFE-
Slime mold AAPFLIDFFFDKVSELLPYV DIVFANESEAATLGRKMNW--
Baker's yeast SAPFIPHVFKDALARVLPYA TVIIANESEAEAFCDAFQLDC
Fission yeast SAPFLSQFFKEQMDSVIPYC DYVIGNEAEILSYGENHGIK-
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
2 – 362 Adenosine kinase
186 – 242 Missing. In isoform 3.
235 – 240
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Bjursell M.K.; Blom H.J.; Cayuela J.A.; Engvall M.L.; Lesko N.; Balasubramaniam S.; Brandberg G.; Halldin M.; Falkenberg M.; Jakobs C.; Smith D.; Struys E.; von Dobeln U.; Gustafsson C.M.; Lundeberg J.; Wedell A.;
Am. J. Hum. Genet. 89:507-515(2011)
Cited for: VARIANTS HMAKD GLU-30; ALA-235 AND GLU-318; CHARACTERIZATION OF VARIANTS HMAKD GLU-30; ALA-235 AND GLU-318;
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