Variant position: 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 250 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 DVLNDAIFDEDHDEMVIVKD IDMFSMCEHHLVPFVGKVHIG
Mouse DVLNDAIFDEDHDEMVIVKD IDMFSMCEHHLVPFVGRVHIG
Rat DVLNDAIFDEDHDEMVIVKD IDMFSMCEHHLVPFVGRVHIG
Chicken DVLNDAIFDEDHDEMVIVKN IDMFSLCEHHLVPFVGKVHIG
Caenorhabditis elegans ELLNEAVFDEDHDEMVIVKD IEMFSLCEHHLVPFMGKVHIG
Drosophila DVLNGAVFDEDHDEMVVVKD IEMFSMCEHHLVPFYGKVSIG
Slime mold EVIGEAIFNENHHEMVVVRD IDIFSLCEHHMVPFHGKCHIG
Baker's yeast DVIKNAVFEEDHDEMVIVRD IEIYSLCEHHLVPFFGKVHIG
Fission yeast EVINEAVFQEDHEEMVIVRD IDVFSLCEHHLVPFIGKIHIG
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.
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
Cai C.; Shi W.; Zeng Z.; Zhang M.; Ling C.; Chen L.; Cai C.; Zhang B.; Li W.D.;
PLoS ONE 8:E65215-E65215(2013)
Cited for: VARIANTS CYS-75; VAL-98 AND THR-135;
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