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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.His61Arg

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
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Variant information Variant position: help 61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Histidine (H) to Arginine (R) at position 61 (H61R, p.His61Arg). 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 polar (H) to large size and basic (R) 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 Enzyme activity 37% of normal; asymptomatic. Any additional useful information about the variant.


Sequence information Variant position: help 61 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 LIMDRTERLARDVMKEMGGH H IVALCVLKGGYKFFADLLDY 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                         LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLDY

                              LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLD

Chimpanzee                    LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLD

Mouse                         LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLD

Rat                           LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLD

Pig                           LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLD

Bovine                        LIMDRTERLARDVMKEM-GGHHIVALCVLKGGYKFFADLLD

Chicken                       LIMDRTERLAREIMKGM-GGHHIVALCVLKGGYKFFADLLD

Slime mold                    -IKERVSELGRQITQDYKDSKNLVLVGILKGSFVFMSDLVR

Baker's yeast                 VSAERIKNFKPDLIIAI-GG----------GGFIPARILRT

Fission yeast                 ------ETFRPDVIIAI-GG----------GGFIPARILRT

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.



Literature citations
An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.
Fujimori S.; Sakuma R.; Yamaoka N.; Hakoda M.; Yamanaka H.; Kamatani N.;
Hum. Genet. 99:8-10(1997)
Cited for: VARIANT ARG-61;
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.