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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30793: Variant p.Met213Val

GTP cyclohydrolase 1
Gene: GCH1
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Variant information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Methionine (M) to Valine (V) at position 213 (M213V, p.Met213Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In DRD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 250 The length of the canonical sequence.
Location on the sequence: help ITEALRPAGVGVVVEATHMC M VMRGVQKMNSKTVTSTMLGV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         ITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGV

Mouse                         ITEALQPAGVGVVIEATHMCMVMRGVQKMNSKTVTSTMLGV

Rat                           ITEALQPAGVGVVIEATHMCMVMRGVQKMNSKTVTSTMLGV

Chicken                       ITEALQPAGVGVVIEATHMCMVMRGVQKMNSKTATSTMLGV

Caenorhabditis elegans        MVQAVQPSGVAVVIEASHMCMVMRGVQKINASTTTSCMLGV

Drosophila                    VTQAVQPAGVAVVVEGVHMCMVMRGVQKINSKTVTSTMLGV

Slime mold                    IQAHLNPMGVAVVIEASHMCMVMRGVQKPGASTVTSSVCGI

Baker's yeast                 LSDILKPLGVAVVMEASHMCMVSRGIQKTGSSTVTSCMLGG

Fission yeast                 IQAVLKPQGVAVVMEATHMCMVMRGVEKPGSSTVTSSLTGI

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 250 GTP cyclohydrolase 1
Binding site 212 – 212
Alternative sequence 210 – 250 Missing. In isoform GCH-3.
Alternative sequence 210 – 233 HMCMVMRGVQKMNSKTVTSTMLGV -> KSNKYNKGLSPLLSSCHLFVAILK. In isoform GCH-4.
Alternative sequence 210 – 213 HMCM -> SAEP. In isoform GCH-2.
Helix 211 – 213



Literature citations
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.;
Neurology 55:1735-1737(2000)
Cited for: VARIANTS DRD ARG-163 AND VAL-213;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.