Variant position: 263 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:
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 SSPSSEGSLSQ--RQRSTSTPN VHMVSTTLPVDSRMIEDAIRS
Mouse SSPSSEGSLSQ--RQRSTSTPN VHMVSTTLHVDSRMIEDAI
Rat SSPSSEGSLSQ--RQRSTSTPN VHMVSTTLPVDSRMIEDAI
Bovine SSPSSEGSLSQ--RQRSTSTPN VHMVSATLPVDSRMIEDAI
Chicken SNPSSEGTLSQ--RQRSTSTPN VHMVSTTMPVDSRIIEDAI
Xenopus laevis PSPVSECSLSQ--RQRSTSTPN VHMVSTTMAVDSRVIEDAL
Fission yeast QSLESHYKLNQVGEKEYSTISD LCFSKGNLFLYTGAFDNAV
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
1 – 648 RAF proto-oncogene serine/threonine-protein kinase
220 – 334 Disordered
222 – 269 Polar residues
252 – 252 Phosphoserine
259 – 259 Phosphoserine; by PKA, PKC and PKB/AKT1
268 – 268 Phosphothreonine; by autocatalysis
269 – 269 Phosphothreonine; by PKA
278 – 278 E -> ENNNLSASPRAWSRRFCLRGR. In isoform 2.
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque M.A.; Nishizawa T.; Komoike Y.; Yagi H.; Furutani M.; Amo R.; Kamisago M.; Momma K.; Katayama H.; Nakagawa M.; Fujiwara Y.; Matsushima M.; Mizuno K.; Tokuyama M.; Hirota H.; Muneuchi J.; Higashinakagawa T.; Matsuoka R.;
Nat. Genet. 39:1013-1017(2007)
Cited for: VARIANTS NS5 LEU-257; ALA-261; SER-261; ALA-263 AND VAL-613; CHARACTERIZATION OF VARIANTS NS5 LEU-257; ALA-261; SER-261; ALA-263 AND VAL-613;
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.