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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00492: Variant p.Leu147Pro

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
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Variant information Variant position: help 147 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 Leucine (L) to Proline (P) at position 147 (L147P, p.Leu147Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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; Asia. Any additional useful information about the variant.


Sequence information Variant position: help 147 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 GKNVLIVEDIIDTGKTMQTL L SLVRQYNPKMVKVASLLVKR 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                         GKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVK-----------------VASLLVKR

                              GKNVLIVEDIIDTGKTMQTLLSLVKEHNPKMVK--------

Chimpanzee                    GKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVK--------

Mouse                         GKNVLIVEDIIDTGKTMQTLLSLVKQYSPKMVK--------

Rat                           GKNVLIVEDIIDTGKTMQTLLSLVKQYSPKMVK--------

Pig                           GKNVLIVEDIIDTGKTMQTLLSLVKQHNPKMVK--------

Bovine                        GKNVLIVEDIIDTGKTMQTLLALVKKHKPKMVK--------

Chicken                       GKNVLIVEDIIDTGKTMKTLLSLLKQYNPKMVK--------

Slime mold                    GKDVLIIEDIVDSGLTLKHLMELLNHRNPNSLH--------

Baker's yeast                 GKNVLIVDEVDDTRTTLHYALSELEKDAAEQAKAKGIDTEK

Fission yeast                 GKNILIVDEVDDTRTTLHYALRELQRDVAEQAKKLNREGE-
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
Binding site 166 – 166
Modified residue 142 – 142 Phosphothreonine
Helix 141 – 150



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.