UniProtKB/Swiss-Prot P19440: Variant p.Val272Ala

Glutathione hydrolase 1 proenzyme
Gene: GGT1
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Variant information Variant position:

272 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 Valine (V) to Alanine (A) at position 272 (V272A, p.Val272Ala). 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 hydrophobic (V) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs4049829 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DLNNYRAELIEHPLNISLGD V VLYMPSAPLSGPVLALILNI 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                         DLNNYRAELIEHPLNISLGDVVLYMPSAPLSGPVLALILNI

Mouse                         DLNNYRAELIEHPMSIGLGDATLYVPSAPLSGPVLILILNI

Rat                           DLNNYRAEVIEHPMSIGLGDSTLYVPSAPLSGPVLILILNI

Pig                           DLNNYRAELIEQPLRISLGDAQLYAPNAPLSGPVLALILNI

Fission yeast                 DMANFSV-VVEEPIYGNFYDREVITCGSPCSGEALILGLNV

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	1 – 380	Glutathione hydrolase 1 heavy chain
Topological domain	27 – 569	Extracellular
Glycosylation	266 – 266	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 344	Missing. In isoform 3.
Beta strand	272 – 276

Literature citations
Cloning and nucleotide sequence of human gamma-glutamyl transpeptidase.
Rajpert-De Meyts E.; Heisterkamp N.; Groffen J.;
Proc. Natl. Acad. Sci. U.S.A. 85:8840-8844(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-272; The primary structure of human gamma-glutamyl transpeptidase.
Sakamuro D.; Yamazoe M.; Matsuda Y.; Kangawa K.; Taniguchi N.; Matsuo H.; Yoshikawa H.; Ogasawara N.;
Gene 73:1-9(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 30-58 AND 381-408; VARIANT ALA-272; Regulation of the expression of some genes for enzymes of glutathione metabolism in hepatotoxicity and hepatocarcinogenesis.
Pitot H.C.; Goodspeed D.C.; Dunn T.J.; Hendrich S.; Maronpot R.R.; Moran S.;
Toxicol. Appl. Pharmacol. 97:23-34(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-272; Human gamma-glutamyl transpeptidase cDNA: comparison of hepatoma and kidney mRNA in the human and rat.
Goodspeed D.C.; Dunn T.J.; Miller C.D.; Pitot H.C.;
Gene 76:1-9(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-272; An alternatively processed mRNA specific for gamma-glutamyl transpeptidase in human tissues.
Pawlak A.; Cohen E.H.; Octave J.-N.; Schweickhardt R.; Wu S.-J.; Bulle F.; Chikhi N.; Baik J.-H.; Siegrist S.; Guellaen G.;
J. Biol. Chem. 265:3256-3262(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT ALA-272; Gamma-glutamyltransferase: nucleotide sequence of the human pancreatic cDNA. Evidence for a ubiquitous gamma-glutamyltransferase polypeptide in human tissues.
Courtay C.; Oster T.; Michelet F.; Visvikis A.; Diederich M.; Wellman M.; Siest G.;
Biochem. Pharmacol. 43:2527-2533(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-272;

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.