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UniProtKB/Swiss-Prot P30793: Variant p.Ala98Val

GTP cyclohydrolase 1
Gene: GCH1
Variant information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Valine (V) at position 98 (A98V, p.Ala98Val).
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:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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



Sequence information

Variant position:  98
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:   ILSSLGENPQRQGLLKTPWR  A ASAMQFFTKGYQETISDVLN
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                         ILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETI-SDVLN

Mouse                         ILLSLGEDPQRQGLLKTPWRAATAMQYFTKGYQETI-SDVL

Rat                           ILRSLGEDPQRQGLLKTPWRAATAMQFFTKGYQETI-SDVL

Chicken                       ILRALGEDPERQGLLKTPWRAATAMQFFTKGYQETI-ADVL

Caenorhabditis elegans        IIQHVGEDINRQGLLKTPERAAKAMMAFTKGYDDQL-DELL

Drosophila                    LLGGLGENPDRQGLIKTPERAAKAMLYFTKGYDQSL-EDVL

Slime mold                    LLSSLGEDPDREGLLKTPLRMSKALLFFTQGYEQSV-DEVI

Baker's yeast                 ILTELGEDVNREGLLDTPQRYAKAMLYFTKGYQTNIMDDVI

Fission yeast                 ILECLGEDPERQGLLGTPERYAKAMLYFTKGYEQNL-TEVI

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.

TypePositionsDescription
Chain 1 – 250 GTP cyclohydrolase 1
Modified residue 81 – 81 Phosphoserine
Helix 94 – 102


Literature citations

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;

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.