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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04049: Variant p.Pro261Ser

RAF proto-oncogene serine/threonine-protein kinase
Gene: RAF1
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Variant information Variant position: help 261
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 261 (P261S, p.Pro261Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type.
Other resources: help


Sequence information Variant position: help 261
Protein sequence length: help 648
Location on the sequence: help NTSSPSSEGSLSQRQRSTST P NVHMVSTTLPVDSRMIEDAI
Residue conservation: help 
Human                         NTSSPSSEGS------LSQRQRSTSTPNVHMVSTTLPVDSRMIEDAI

Mouse                         NTSSPSSEGS------LSQRQRSTSTPNVHMVSTTLHVDSR

Rat                           NTSSPSSEGS------LSQRQRSTSTPNVHMVSTTLPVDSR

Bovine                        SASSPSSEGS------LSQRQRSTSTPNVHMVSATLPVDSR

Chicken                       NTSNPSSEGT------LSQRQRSTSTPNVHMVSTTMPVDSR

Xenopus laevis                STPSPVSECS------LSQRQRSTSTPNVHMVSTTMAVDSR

Fission yeast                 HSETIQSLESHYKLNQVGEKEYSTI-SDLCFSKGNLFLYTG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 648 RAF proto-oncogene serine/threonine-protein kinase
Region 220 – 334 Disordered
Compositional bias 239 – 271 Polar residues
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; LEU-257; 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; CHARACTERIZATION OF VARIANTS NS5 SER-261; ASN-486 AND ILE-491; CHARACTERIZATION OF VARIANT LPRD2 VAL-613; CATALYTIC ACTIVITY; 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; Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Longoni M.; Moncini S.; Cisternino M.; Morella I.M.; Ferraiuolo S.; Russo S.; Mannarino S.; Brazzelli V.; Coi P.; Zippel R.; Venturin M.; Riva P.;
Am. J. Med. Genet. A 152:2176-2184(2010)
Cited for: VARIANT NS5 SER-261;
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.