UniProtKB/Swiss-Prot Q15399: Variant p.Val587Gly

Toll-like receptor 1
Gene: TLR1
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Variant information Variant position:

587 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 Glycine (G) at position 587 (V587G, p.Val587Gly). 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 glycine (G) 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:

Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is associated with impaired cell surface expression and receptor function resulting in protection against leprosy. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs5743617 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LKDFHMSELSCNITLLIVTI V ATMLVLAVTVTSLCSYLDLP 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                         LKDFHMSELSCNITLLIVTIVATMLVLAVTVTSLCSYLDLP

Mouse                         LRDFHMSPLSCDTVLLTVTIGATMLVLAVTGAFLCLYFDLP

Drosophila                    -----------------------------------------

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	25 – 786	Toll-like receptor 1
Transmembrane	581 – 601	Helical
Glycosylation	578 – 578	N-linked (GlcNAc...) asparagine

Literature citations
Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family.
Ben-Ali M.; Corre B.; Manry J.; Barreiro L.B.; Quach H.; Boniotto M.; Pellegrini S.; Quintana-Murci L.;
Hum. Mutat. 32:643-652(2011)
Cited for: VARIANTS PRO-44; THR-75; THR-80; TYR-118; SER-248; LEU-305; LEU-315; ASN-352; VAL-460; ALA-542; CYS-554; GLY-587; ILE-602; ALA-651; ALA-674; PRO-720 AND LEU-733; CHARACTERIZATION OF VARIANTS LEU-315; CYS-554; ILE-602; ALA-651 AND PRO-720;

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.