UniProtKB/SwissProt variant VAR

Variant information

Variant position:

466

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Glycine (G) to Valine (V) at position 466 (G466V, p.Gly466Val).

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 glycine (G) to medium size and hydrophobic (V)

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

Variant description:

In LNCR.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121913351 [ dbSNP | Ensembl ]

Sequence information

Variant position:

466

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

766

The length of the canonical sequence.

Location on the sequence:

SSDDWEIPDGQITVGQRIGS G SFGTVYKGKWHGDVAVKMLN

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                         SSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLN

Mouse                         SSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLN

Chicken                       SSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLN

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	2 – 766	Serine/threonine-protein kinase B-raf
Domain	457 – 717	Protein kinase
Binding site	463 – 471
Binding site	483 – 483
Modified residue	446 – 446	Phosphoserine
Modified residue	447 – 447	Phosphoserine
Mutagenesis	483 – 483	K -> S. Reduces kinase activity with MAP2K1.
Beta strand	466 – 468

Literature citations

Missense mutations of the BRAF gene in human lung adenocarcinoma.
Naoki K.; Chen T.-H.; Richards W.G.; Sugarbaker D.J.; Meyerson M.;
Cancer Res. 62:7001-7003(2002)
Cited for: VARIANTS LNCR VAL-466 AND ARG-597;

Mutations of the BRAF gene in human cancer.
Davies H.; Bignell G.R.; Cox C.; Stephens P.; Edkins S.; Clegg S.; Teague J.; Woffendin H.; Garnett M.J.; Bottomley W.; Davis N.; Dicks E.; Ewing R.; Floyd Y.; Gray K.; Hall S.; Hawes R.; Hughes J.; Kosmidou V.; Menzies A.; Mould C.; Parker A.; Stevens C.; Watt S.; Hooper S.; Wilson R.; Jayatilake H.; Gusterson B.A.; Cooper C.; Shipley J.; Hargrave D.; Pritchard-Jones K.; Maitland N.; Chenevix-Trench G.; Riggins G.J.; Bigner D.D.; Palmieri G.; Cossu A.; Flanagan A.; Nicholson A.; Ho J.W.C.; Leung S.Y.; Yuen S.T.; Weber B.L.; Seigler H.F.; Darrow T.L.; Paterson H.; Marais R.; Marshall C.J.; Wooster R.; Stratton M.R.; Futreal P.A.;
Nature 417:949-954(2002)
Cited for: VARIANTS CANCER GLU-464; VAL-464; ALA-466; GLU-466; VAL-466; ALA-469; GLU-469; LYS-586; LEU-595; ARG-596; ARG-597; VAL-597; GLU-600 AND ASP-600; CHARACTERIZATION OF VARIANTS CANCER VAL-464; ALA-469; VAL-597 AND GLU-600;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15056: Variant p.Gly466Val