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UniProtKB/Swiss-Prot P04049: Variant p.Thr260Arg

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

Variant position:  260
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 Threonine (T) to Arginine (R) at position 260 (T260R, p.Thr260Arg).
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 polar (T) to large size and basic (R)
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 NS5.
Any additional useful information about the variant.



Sequence information

Variant position:  260
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:   FNTSSPSSEGSLSQRQRSTS  T PNVHMVSTTLPVDSRMIEDA
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                         FNT---SSPSSEGSLSQ--RQRSTSTPNVHMVSTTLPVDSRMIEDA

Mouse                         FNT---SSPSSEGSLSQ--RQRSTSTPNVHMVSTTLHVDSR

Rat                           FNT---SSPSSEGSLSQ--RQRSTSTPNVHMVSTTLPVDSR

Bovine                        FSA---SSPSSEGSLSQ--RQRSTSTPNVHMVSATLPVDSR

Chicken                       FNT---SNPSSEGTLSQ--RQRSTSTPNVHMVSTTMPVDSR

Xenopus laevis                FST---PSPVSECSLSQ--RQRSTSTPNVHMVSTTMAVDSR

Fission yeast                 FHSETIQSLESHYKLNQVGEKEYSTISDLCFSKGNLFLYTG

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 1 – 648 RAF proto-oncogene serine/threonine-protein kinase
Modified residue 252 – 252 Phosphoserine
Modified residue 259 – 259 Phosphoserine; by PKA, PKC and PKB/AKT1
Modified residue 268 – 268 Phosphothreonine; by autocatalysis
Modified residue 269 – 269 Phosphothreonine; by PKA
Alternative sequence 278 – 278 E -> ENNNLSASPRAWSRRFCLRGR. In isoform 2.


Literature citations

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B.; Sarkozy A.; Pennacchio L.A.; Carta C.; Oishi K.; Martinelli S.; Pogna E.A.; Schackwitz W.; Ustaszewska A.; Landstrom A.; Bos J.M.; Ommen S.R.; Esposito G.; Lepri F.; Faul C.; Mundel P.; Lopez Siguero J.P.; Tenconi R.; Selicorni A.; Rossi C.; Mazzanti L.; Torrente I.; Marino B.; Digilio M.C.; Zampino G.; Ackerman M.J.; Dallapiccola B.; Tartaglia M.; Gelb B.D.;
Nat. Genet. 39:1007-1012(2007)
Cited for: VARIANTS NS5 SER-256; PHE-259; ARG-260; LEU-261; SER-261; ASN-486; GLY-486; ILE-491; ARG-491 AND THR-612; VARIANT HYPERTROPHIC CARDIOMYOPATHY ILE-260; VARIANTS LPRD2 LEU-257 AND VAL-613; VARIANT NS5 LEU-257; CHARACTERIZATION OF VARIANTS NS5 SER-261; ASN-486 AND ILE-491; CHARACTERIZATION OF VARIANT LPRD2 VAL-613;

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.