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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15056: Variant p.Phe468Ser

Serine/threonine-protein kinase B-raf
Gene: BRAF
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Variant information Variant position: help 468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Phenylalanine (F) to Serine (S) at position 468 (F468S, p.Phe468Ser). 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: help Change from large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In CFC1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 766 The length of the canonical sequence.
Location on the sequence: help DDWEIPDGQITVGQRIGSGS F GTVYKGKWHGDVAVKMLNVT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVT

Mouse                         DDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVT

Chicken                       DDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVT
Sequence annotation in neighborhood: help 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
Binding site 463 – 471
Binding site 483 – 483
Mutagenesis 483 – 483 K -> S. Reduces kinase activity with MAP2K1.



Literature citations
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P.; Tetsu O.; Tidyman W.E.; Estep A.L.; Conger B.A.; Cruz M.S.; McCormick F.; Rauen K.A.;
Science 311:1287-1290(2006)
Cited for: VARIANTS CFC1 ARG-257; ALA-467; SER-468; GLU-469; PHE-485; GLU-499; LYS-501; GLY-501; ASP-581; LEU-595 AND VAL-596; Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz A.L.; Albrecht B.; Arici C.; van der Burgt I.; Buske A.; Gillessen-Kaesbach G.; Heller R.; Horn D.; Hubner C.A.; Korenke G.C.; Konig R.; Kress W.; Kruger G.; Meinecke P.; Mucke J.; Plecko B.; Rossier E.; Schinzel A.; Schulze A.; Seemanova E.; Seidel H.; Spranger S.; Tuysuz B.; Uhrig S.; Wieczorek D.; Kutsche K.; Zenker M.;
Clin. Genet. 73:62-70(2008)
Cited for: VARIANTS CFC1 PRO-241; PRO-244; PRO-246; ARG-257; LYS-262; SER-468; GLU-469; GLU-499; ASN-499; ASP-580; ASP-581 AND LEU-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.