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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.Val188Ala

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
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Variant information Variant position: help 188 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 Valine (V) to Alanine (A) at position 188 (V188A, p.Val188Ala). 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 Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In HRH and LNS; Asia. Any additional useful information about the variant.


Sequence information Variant position: help 188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 218 The length of the canonical sequence.
Location on the sequence: help TPRSVGYKPDFVGFEIPDKF V VGYALDYNEYFRDLNHVCVI 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                         TPRSVGYKPD--------FVGFEIPDKFVVGYALDYNEYFRDLNHVCVI

                              TPRSVGYKPD--------FVGFEIPDKFVVGYALDYNEYFR

Chimpanzee                    TPRSVGYKPD--------FVGFEIPDKFVVGYALDYNEYFR

Mouse                         TSRSVGYRPD--------FVGFEIPDKFVVGYALDYNEYFR

Rat                           TSRSVGYRPD--------FVGFEIPDKFVVGYALDYNEHFR

Pig                           TPRSVGYRPD--------FVGFEIPDKFVVGYALDYNEYFR

Bovine                        TPRSVGYKPD--------FVGFEIPDKFVVGYALDYNEYFR

Chicken                       TPRSVGYRPD--------FVGFEVPDKFVVGYALDYNEYFR

Slime mold                    EGLKVEVPVK--------YMGFDIPMVFIIGYGLDFAENYR

Baker's yeast                 KPKKADLPAEMLNDKNRYFAAKTVPDKWYA-YPWESTDIVF

Fission yeast                 KPKNAQLDKEILD--KYYFTGCNTPDCWIM-YPWEAQDIEE

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 2 – 218 Hypoxanthine-guanine phosphoribosyltransferase
Binding site 186 – 188
Binding site 194 – 194
Binding site 194 – 194
Beta strand 188 – 190



Literature citations
Identification of two independent Japanese mutant HPRT genes using the PCR technique.
Yamada Y.; Goto H.; Ogasawara N.;
Adv. Exp. Med. Biol. 309B:121-124(1991)
Cited for: VARIANT ALA-188; NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 183-193; Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y.; Yamada K.; Sonta S.; Wakamatsu N.; Ogasawara N.;
Nucleosides Nucleotides Nucleic Acids 23:1169-1172(2004)
Cited for: VARIANTS LNS PRO-64; PRO-65; GLU-70; CYS-72; GLN-78; PRO-147; GLU-159 AND 107-ASN--SER-110 DEL; VARIANTS HRH ALA-188; VAL-192 AND CYS-195; Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
Yamada Y.; Nomura N.; Yamada K.; Wakamatsu N.;
Mol. Genet. Metab. 90:70-76(2007)
Cited for: VARIANTS LNS VAL-8 DEL; TYR-28 DEL; PRO-64; PRO-65; GLU-70; CYS-72; GLN-78; PRO-147; GLU-159; VAL-159 INS AND ALA-188; VARIANTS HRH PRO-124; GLY-185; VAL-192 AND CYS-195;
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.