Home  |  Contact

UniProtKB/Swiss-Prot P15056: Variant p.Leu597Val

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

Variant position:  597
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 Leucine (L) to Valine (V) at position 597 (L597V, p.Leu597Val).
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

Variant description:  In NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  597
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:   LKSNNIFLHEDLTVKIGDFG  L ATVKSRWSGSHQFEQLSGSI
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                         LKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSI

Mouse                         LKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSI

Chicken                       LKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSI

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
Cross 578 – 578 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis 578 – 578 K -> R. Blocks EGF-induced ubiquitination and ERK activation.


Literature citations

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;

Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-301; ALA-469; VAL-469; SER-581; ARG-596; ARG-597; VAL-597 AND GLU-600;

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A.; Carta C.; Moretti S.; Zampino G.; Digilio M.C.; Pantaleoni F.; Scioletti A.P.; Esposito G.; Cordeddu V.; Lepri F.; Petrangeli V.; Dentici M.L.; Mancini G.M.; Selicorni A.; Rossi C.; Mazzanti L.; Marino B.; Ferrero G.B.; Silengo M.C.; Memo L.; Stanzial F.; Faravelli F.; Stuppia L.; Puxeddu E.; Gelb B.D.; Dallapiccola B.; Tartaglia M.;
Hum. Mutat. 30:695-702(2009)
Cited for: VARIANT LPRD3 PRO-241; VARIANTS NS7 ARG-241; MET-241; CYS-531 AND VAL-597; VARIANTS CFC1 PHE-245; PRO-246; ARG-257; LYS-275; GLU-469; PHE-485; ASN-499; LYS-501; PRO-525; LEU-595; ARG-599; GLN-601; GLU-638 AND ARG-709;

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.