UniProtKB/Swiss-Prot P16278: Variant p.Arg595Trp

Beta-galactosidase
Gene: GLB1
Feedback?

Variant information Variant position:

595 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 Arginine (R) to Tryptophan (W) at position 595 (R595W, p.Arg595Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Polymorphism:

The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a polymorphic change creating a Cys at position 521 in the reference genome (PubMed:16641997). The sequence shown in this entry is that of variant p.Cys521Arg, which has a frequency of about 99% in the human population according to the Genome Aggregation Database (gnomAD v4.1.0), and gives rise to a fully active beta-galactosidase (PubMed:15714521, PubMed:16941474, PubMed:17664528). Additional information on the polymorphism described.
Variant description:

Reduction of galactosidase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs201807974 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GWTKGQVWINGFNLGRYWPA R GPQLTLFVPQHILMTSAPNT 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                         GWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNT

                              GWTKGQVWINGFNLGRYWPARGPQMTLFVPRHILVTSTPNT

Mouse                         GWSKGQVWINGFNLGRYWPTMGPQKTLFVPRNILTTSAPNN

Bovine                        GWTKGQVWINGFNLGRYWPVRGPQMTLFVPQHILVTSTPNT

Cat                           GWTKGQVWINGFNLGRYWPGRGPQVTLFVPRHILVTSAPNT

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	29 – 677	Beta-galactosidase
Turn	593 – 595

Literature citations
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
Gort L.; Santamaria R.; Grinberg D.; Vilageliu L.; Chabas A.;
Clin. Genet. 72:109-111(2007)
Cited for: VARIANT TRP-595; CHARACTERIZATION OF VARIANT TRP-595;

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.