Variant position: 213 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 ITEALRPAGVGVVVEATHMC MVMRGVQKMNSKTVTSTMLGV
Mouse ITEALQPAGVGVVIEATHMC MVMRGVQKMNSKTVTSTMLGV
Rat ITEALQPAGVGVVIEATHMC MVMRGVQKMNSKTVTSTMLGV
Chicken ITEALQPAGVGVVIEATHMC MVMRGVQKMNSKTATSTMLGV
Caenorhabditis elegans MVQAVQPSGVAVVIEASHMC MVMRGVQKINASTTTSCMLGV
Drosophila VTQAVQPAGVAVVVEGVHMC MVMRGVQKINSKTVTSTMLGV
Slime mold IQAHLNPMGVAVVIEASHMC MVMRGVQKPGASTVTSSVCGI
Baker's yeast LSDILKPLGVAVVMEASHMC MVSRGIQKTGSSTVTSCMLGG
Fission yeast IQAVLKPQGVAVVMEATHMC MVMRGVEKPGSSTVTSSLTGI
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
1 – 250 GTP cyclohydrolase 1
212 – 212 Zinc
210 – 250 Missing. In isoform GCH-3.
210 – 233 HMCMVMRGVQKMNSKTVTSTMLGV -> KSNKYNKGLSPLLSSCHLFVAILK. In isoform GCH-4.
210 – 213 HMCM -> SAEP. In isoform GCH-2.
211 – 214
Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.
Steinberger D.; Korinthenberg R.; Topka H.; Berghaeuser M.; Wedde R.; Mueller U.;
Cited for: VARIANTS DRD ARG-163 AND VAL-213;
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