Variant position: 428 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 528 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 GLCKQNGEVKAYGAGLLSSY GELLHCLSEEPEIRAFDPEAA
Mouse GLCKQNGELKAYGAGLLSSY GELLHSLSEEPEVRAFDPDTA
Rat GLCKQNGELKAYGAGLLSSY GELLHSLSEEPEVRAFDPDTA
Bovine GLCKQNGEVKAYGAGLLSSY GELLHSLSEEPEIRAFDPDAA
Caenorhabditis elegans GLCKEDGKLKAIGAGLLSAY GELMHACSDAPEHKDFDPAVT
Drosophila GLCKEHGQIKAYGAGLLSSY GELLHAISDKCEHRAFEPAST
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.
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M.; Mencacci N.E.; Cordivari C.; Batla A.; Wood N.W.; Houlden H.; Hardy J.; Bhatia K.P.;
Cited for: VARIANT ARSEGS ARG-428;
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-19 AND ARG-428;
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