Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.Val130Asp

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
Feedback?
Variant information Variant position: help 130 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 Valine (V) to Aspartate (D) at position 130 (V130D, p.Val130Asp). 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 (V) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; Midland/RJK 896. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 130 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 STGDIKVIGGDDLSTLTGKN V LIVEDIIDTGKTMQTLLSLV 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                         STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQTLLSLV

                              STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQ

Chimpanzee                    STG-DTKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQ

Mouse                         STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQ

Rat                           STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQ

Pig                           STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQ

Bovine                        STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMQ

Chicken                       STG-DIKVIGGDDLST-----LTGKNVLIVEDIIDTGKTMK

Slime mold                    SSG-VIRIM--MDLRT----SIEGKDVLIIEDIVDSGLTLK

Baker's yeast                 EVGVKVSRTQWIDYEQCKL-DLVGKNVLIVDEVDDTRTTLH

Fission yeast                 VPGLEVKRTQWLDFSTLGMVDLVGKNILIVDEVDDTRTTLH
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
Active site 138 – 138 Proton acceptor
Modified residue 142 – 142 Phosphothreonine
Cross 115 – 115 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross 115 – 115 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Beta strand 128 – 140



Literature citations
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Davidson B.L.; Palella T.D.; Kelly W.N.;
Gene 68:85-91(1988)
Cited for: VARIANT LNS MIDLAND ASP-130; Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
Gibbs R.A.; Nguyen P.N.; Edwards A.; Civitello A.B.; Caskey C.T.;
Genomics 7:235-244(1990)
Cited for: VARIANTS LNS RJK LYS-45; LEU-74; ASP-130; SER-131; LYS-143; SER-161; TYR-177; ASN-194; VAL-199; ASP-204 AND TYR-206;
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.