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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.Ile183Thr

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
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Variant information Variant position: help 183 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 Isoleucine (I) to Threonine (T) at position 183 (I183T, p.Ile183Thr). 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 (I) to medium size and polar (T) 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 HRH; JF. Any additional useful information about the variant.


Sequence information Variant position: help 183 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 LLVKRTPRSVGYKPDFVGFE I PDKFVVGYALDYNEYFRDLN 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                         LLVKRTPRSVGYKPD--------FVGFEIPDKFVVGYALDYNEYFRDLN

                              LLVKRTPRSVGYKPD--------FVGFEIPDKFVVGYALDY

Chimpanzee                    LLVKRTPRSVGYKPD--------FVGFEIPDKFVVGYALDY

Mouse                         LLVKRTSRSVGYRPD--------FVGFEIPDKFVVGYALDY

Rat                           LLVKRTSRSVGYRPD--------FVGFEIPDKFVVGYALDY

Pig                           LLVKRTPRSVGYRPD--------FVGFEIPDKFVVGYALDY

Bovine                        LLMKRTPRSVGYKPD--------FVGFEIPDKFVVGYALDY

Chicken                       LLVKRTPRSVGYRPD--------FVGFEVPDKFVVGYALDY

Slime mold                    LLRKKEGLKVEVPVK--------YMGFDIPMVFIIGYGLDF

Baker's yeast                 LHDKQKPKKADLPAEMLNDKNRYFAAKTVPDKWYA-YPWES

Fission yeast                 VHNKVKPKNAQLDKEILD--KYYFTGCNTPDCWIM-YPWEA
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 166 – 166
Binding site 194 – 194
Binding site 194 – 194
Beta strand 177 – 183



Literature citations
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
Tarle S.A.; Davidson B.L.; Wu V.C.; Zidar F.J.; Seegmiller J.E.; Kelley W.N.; Palella T.D.;
Genomics 10:499-501(1991)
Cited for: VARIANTS LNS TYR-28 DEL; VAL-50; GLU-70; LEU-74; THR-183 AND ARG-204;
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.