UniProtKB/Swiss-Prot O00214: Variant p.Met56Val

Galectin-8
Gene: LGALS8
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Variant information Variant position:

56 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 Methionine (M) to Valine (V) at position 56 (M56V, p.Met56Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs1041937 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RGHVPSDADRFQVDLQNGSS M KPRADVAFHFNPRFKRAGCI 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                         RGHVPSDADRFQVDLQNGSSMKPRADVAFHFNPRFKRAGCI

Mouse                         RGHVPKDSERFQVDFQLGNSLKPRADVAFHFNPRFKRSSCI

Rat                           RGHVPKDSERFQVDFQHGNSLKPRADVAFHFNPRFKRSNCI

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 – 317	Galectin-8
Domain	19 – 152	Galectin 1
Binding site	69 – 69
Site	59 – 59	Critical for binding to sialylated and sulfated oligosaccharides
Mutagenesis	69 – 69	R -> H. Abolishes localization to cytoplasmic vesicles in case of infection by S.typhimurium.
Turn	56 – 59

Literature citations
Surface-epitope masking and expression cloning identifies the human prostate carcinoma tumor antigen gene PCTA-1 a member of the galectin gene family.
Su Z.-Z.; Lin J.; Shen R.; Fisher P.E.; Goldstein N.I.; Fisher P.B.;
Proc. Natl. Acad. Sci. U.S.A. 93:7252-7257(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-56 AND SER-184; Molecular cloning of a beta-galactoside-binding lectin related to galectin-8 and identified in human lung carcinoma.
Brichory F.; Bidon N.; Desrues B.; Bourguet P.; Le Pennec J.-P.; Dazord L.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); ALTERNATIVE SPLICING; VARIANTS TYR-19; CYS-36; VAL-56 AND SER-184; Genomic organization and expression of the human galectin-8 gene.
Maier C.; Haeussler J.; Roesch K.; Moschgath E.; Vogel W.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TYR-19; CYS-36; VAL-56 AND SER-184; Galectins in murine and human non-Hodgkin's lymphomas.
Moisan S.; Mercier J.; Demers M.; Belanger S.D.; Alain T.; Kossakowska A.E.; Potworowski E.F.; St-Pierre Y.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS TYR-19; CYS-36 AND VAL-56; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS TYR-19; CYS-36; VAL-56 AND SER-184;

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.