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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.Gly70Glu

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
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Variant information Variant position: help 70 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 Glycine (G) to Glutamate (E) at position 70 (G70E, p.Gly70Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 LNS; New Haven/1510, Asia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 70 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 ARDVMKEMGGHHIVALCVLK G GYKFFADLLDYIKALNRNSD 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                         ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSD

                              ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Chimpanzee                    ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Mouse                         ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Rat                           ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Pig                           ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Bovine                        ARDVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Chicken                       AREIMKGM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNS

Slime mold                    GRQITQDYKDSKNLVLVGILKGSFVFMSDLVRSIHLPNTN-

Baker's yeast                 KPDLIIAI-GG----------GGFIPARILRTFLKEPGVPT

Fission yeast                 RPDVIIAI-GG----------GGFIPARILRTFLKKKGSKN
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 69 – 69
Mutagenesis 69 – 69 K -> A. Reduced affinity for hypoxanthine, phosphoribosylpyrophosphate and IMP. Reduced catalytic activity.
Turn 69 – 71



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; 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.