UniProtKB/Swiss-Prot P09211: Variant p.Ala114Val

Glutathione S-transferase P
Gene: GSTP1
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Variant information Variant position:

114 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 Alanine (A) to Valine (V) at position 114 (A114V, p.Ala114Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

In allele GSTP1*C. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1138272 [ dbSNP | Ensembl ]

Sequence information Variant position:

114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

210 The length of the canonical sequence.
Location on the sequence:

NDGVEDLRCKYISLIYTNYE A GKDDYVKALPGQLKPFETLL 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                         NDGVEDLRCKYISLIYTNYEAGKDDYVKA-LPGQLKPFETLL

Rhesus macaque                NDGVEDLRCKYLSLIYTNYEAGKDDYVKA-LPGQLKPFETL

Mouse                         NDGVEDLRGKYVTLIYTNYENGKNDYVKA-LPGHLKPFETL

Rat                           NDGVEDLRCKYGTLIYTNYENGKDDYVKA-LPGHLKPFETL

Pig                           NDGVEDLRCKYATLIYTNYEAGKEKYVKE-LPEHLKPFETL

Bovine                        NDGVEDLRCKYVSLIYTNYEAGKEDYVKA-LPQHLKPFETL

Goat                          NDGVEDLRCKYVSLIYTNYQAGKEDYVKA-LPQHLKPFETL

Xenopus laevis                NDGVEDLRQKYGRLIFFEYETGKDKYLKE-LPSQLDFFERI

Caenorhabditis elegans        YEGLRDLHTKYTTMIYRNYEDGKAPYIKDVLPGELARLEKL

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 – 210	Glutathione S-transferase P
Domain	83 – 204	GST C-terminal
Modified residue	103 – 103	N6-succinyllysine
Modified residue	116 – 116	N6-succinyllysine
Modified residue	128 – 128	N6-acetyllysine
Mutagenesis	99 – 99	D -> A. Reduces affinity for glutathione. Slightly reduced catalytic activity.
Helix	112 – 135

Literature citations
Molecular cloning, characterization, and expression in Escherichia coli of full-length cDNAs of three human glutathione S-transferase Pi gene variants. Evidence for differential catalytic activity of the encoded proteins.
Ali-Osman F.; Akande O.; Antoun G.; Mao J.X.; Buolamwini J.;
J. Biol. Chem. 272:10004-10012(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-105 AND VAL-114; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-105 AND VAL-114;

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.