UniProtKB/Swiss-Prot P04049: Variant p.Gln335His

RAF proto-oncogene serine/threonine-protein kinase
Gene: RAF1
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Variant information Variant position:

335 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glutamine (Q) to Histidine (H) at position 335 (Q335H, p.Gln335His). 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 polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 a lung adenocarcinoma sample; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

335 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

648 The length of the canonical sequence.
Location on the sequence:

QRERAPVSGTQEKNKIRPRG Q RDSSYYWEIEASEVMLSTRI 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                         QR---------ERAPVSGTQEKNKIRPRGQRDSSYYWEIEASEVMLSTRI

Mouse                         QR---------ERAPGSGTQEKNKIRPRGQRDSSYYWEIEA

Rat                           QR---------ERAPGSGTQEKNKIRPRGQRDSSYYWEIEA

Bovine                        QR---------ERAPGSSTQEKNKIRPRGQRDSSYYWEIEA

Chicken                       QR---------ERAPGTNTQEKNKIRPRGQRDSSYYWEIEA

Xenopus laevis                HR---------EKAASSTGQEKNKIRARGQRDSSYYWEIIA

Fission yeast                 CKNGYGYLLSTDNSTGEILTSANLIYPEALEKG-Y----SA

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	1 – 648	RAF proto-oncogene serine/threonine-protein kinase
Region	331 – 349	Interaction with PEBP1/RKIP
Modified residue	338 – 338	Phosphoserine; by PAK1, PAK2, PAK3 and PAK5
Modified residue	339 – 339	Phosphoserine; by PAK1, PAK2 and PAK3
Modified residue	340 – 340	Phosphotyrosine; by SRC
Modified residue	341 – 341	Phosphotyrosine; by SRC

Literature citations
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] ALA-259 AND HIS-335;

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.