Home  |  Contact

UniProtKB/Swiss-Prot P15056: Variant p.Gly466Val

Serine/threonine-protein kinase B-raf
Gene: BRAF
Variant information

Variant position:  466
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

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.



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.

TypePositionsDescription
Chain 2 – 766 Serine/threonine-protein kinase B-raf
Domain 457 – 717 Protein kinase
Nucleotide binding 463 – 471 ATP
Binding site 483 – 483 ATP
Modified residue 446 – 446 Phosphoserine
Modified residue 447 – 447 Phosphoserine
Mutagenesis 483 – 483 K -> S. Reduces kinase activity with MAP2K1.
Beta strand 458 – 466


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;

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.