Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.Tyr72Cys

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
Feedback?
Variant information Variant position: help 72 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 Tyrosine (Y) to Cysteine (C) at position 72 (Y72C, p.Tyr72Cys). 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 large size and aromatic (Y) to medium size and polar (C) 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; Asia. Any additional useful information about the variant.


Sequence information Variant position: help 72 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 DVMKEMGGHHIVALCVLKGG Y KFFADLLDYIKALNRNSDRS 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                         DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRS

                              DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDG

Chimpanzee                    DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDR

Mouse                         DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDR

Rat                           DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDR

Pig                           DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDR

Bovine                        DVMKEM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDK

Chicken                       EIMKGM-GGHHIVALCVLKGGYKFFADLLDYIKALNRNSDK

Slime mold                    QITQDYKDSKNLVLVGILKGSFVFMSDLVRSIHLPNTN---

Baker's yeast                 DLIIAI-GG----------GGFIPARILRTFLKEPGVPTIR

Fission yeast                 DVIIAI-GG----------GGFIPARILRTFLKKKGSKNIP

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.
Helix 72 – 87



Literature citations
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.