UniProtKB/Swiss-Prot P19440: Variant p.Val435Ala

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

435 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 435 (V435A, p.Val435Ala). 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 rs1062459 [ dbSNP | Ensembl ]

Sequence information Variant position:

435 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:

ILFNNEMDDFSSPSITNEFG V PPSPANFIQPGKQPLSSMCP 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                         ILFNNEMDDFSSPSITNEFGVPPSPANFIQPGKQPLSSMCP

Mouse                         ILFNDEMDDFSSPNFINQFRVAPSPANFIKPGKQPLSSMCP

Rat                           ILFNDEMDDFSSPNFTNQFGVAPSPANFIKPGKQPLSSMCP

Pig                           ILFNDEMDDFSSPNITNQFGVRPSPANFITPGKQPLSSMCP

Fission yeast                 IILNDHMDDFASPGIVNAFGLSPSPYNFIAPGKRPQSSAVP

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	381 – 569	Glutathione hydrolase 1 light chain
Topological domain	27 – 569	Extracellular
Binding site	423 – 423
Alternative sequence	367 – 569	Missing. In isoform 2.
Mutagenesis	422 – 422	D -> A. Reduces enzyme gamma-glutamyltranspeptidase activity by 90%.
Mutagenesis	423 – 423	D -> A. Abolishes gamma-glutamyltranspeptidase activity. Increases KM for D-gamma-glutamyl-p-nitroanalide by over 1000-fold.
Mutagenesis	425 – 425	S -> A. No effect on gamma-glutamyltranspeptidase activity.
Mutagenesis	451 – 451	S -> A. Reduces gamma-glutamyltranspeptidase activity by 99%. Abolishes activity; when associated with A-452.
Mutagenesis	452 – 452	S -> A. Reduces gamma-glutamyltranspeptidase activity by 99%. Abolishes activity; when associated with A-451.
Mutagenesis	454 – 454	C -> A. No effect on gamma-glutamyltranspeptidase activity.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.