UniProtKB/Swiss-Prot P00492: Variant p.Asp52Gly

Hypoxanthine-guanine phosphoribosyltransferase
Gene: HPRT1
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Variant information Variant position:

52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Aspartate (D) to Glycine (G) at position 52 (D52G, p.Asp52Gly). 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 medium size and acidic (D) to glycine (G) 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 Edinburgh. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137852502 [ dbSNP | Ensembl ]

Sequence information Variant position:

52 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:

LERVFIPHGLIMDRTERLAR D VMKEMGGHHIVALCVLKGGY 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                         LERVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGGY

                              LEKVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGG

Chimpanzee                    LERVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGG

Mouse                         LEKVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGG

Rat                           LEKVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGG

Pig                           LEKVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGG

Bovine                        LEKVFIPHGLIMDRTERLARDVMKEM-GGHHIVALCVLKGG

Chicken                       LEKVYIPHGLIMDRTERLAREIMKGM-GGHHIVALCVLKGG

Slime mold                    ----------IKERVSELGRQITQDYKDSKNLVLVGILKGS

Baker's yeast                 --------QVSAERIKNFKPDLIIAI-GG----------GG

Fission yeast                 AEKIL----------ETFRPDVIIAI-GG----------GG

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.

Type	Positions	Description
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	39 – 57

Literature citations
The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
Lightfoot T.; Joshi R.; Nuki G.; Snyder F.F.;
Hum. Genet. 88:695-696(1992)
Cited for: VARIANT EDINBURGH GLY-52; NUCLEOTIDE SEQUENCE [GENOMIC DNA];

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.