UniProtKB/SwissProt variant VAR

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 Arginine (R) at position 597 (L597R, p.Leu597Arg).

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 (L) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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:

In LNCR; also found in an ovarian serous carcinoma sample; somatic mutation.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121913366 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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

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;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15056: Variant p.Leu597Arg