UniProtKB/Swiss-Prot P00492: Variant p.Ser104Arg

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
Chromosomal location: Xq26.1
Variant information

Variant position:  104
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Serine (S) to Arginine (R) at position 104 (S104R, p.Ser104Arg).
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:  Change from small size and polar (S) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In GOUT-HPRT; Munich.
Any additional useful information about the variant.



Sequence information

Variant position:  104
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  218
The length of the canonical sequence.

Location on the sequence:   ALNRNSDRSIPMTVDFIRLK  S YCNDQSTGDIKVIGGDDLST
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ALNRNSDRSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS-------T

Chimpanzee                    ALNRNSDRSIPMTVD-FIRLKSYCNDQSTGDTKVIGGDDLS

Mouse                         ALNRNSDRSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS

Rat                           ALNRNSDRSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS

Pig                           ALNRNSDRSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS

Bovine                        ALNRNSDKSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS

Dog                           ALNRNSDGSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS

Chicken                       ALNRNSDKSIPMTVD-FIRLKSYCNDQSTGDIKVIGGDDLS

Slime mold                    LPNTN------VSLE-FMSISSYGAETSSSGVIRIMMDLRT

Baker's yeast                 EPGVPTIRIFAIILSLYEDLNSVGSEVEEVGVKVSRTQWID

Fission yeast                 KKGSKNIPIQAIGLSLYEELVSDSPE-EVPGLEVKRTQWLD

Sequence annotation in neighborhood:  
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
Modified residue 103 – 103 N6-acetyllysine


Literature citations

Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
Wilson J.M.; Kelley W.N.;
J. Biol. Chem. 259:27-30(1984)
Cited for: VARIANT GOUT-HPRT MUNICH ARG-104;

Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
Cariello N.F.; Scott J.K.; Kat A.G.; Thilly W.G.; Keohavong P.;
Am. J. Hum. Genet. 42:726-734(1988)
Cited for: VARIANT GOUT-HPRT MUNICH ARG-104;

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.