Variant position: 491 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 SNNIFLHEGLTVKIGDFGLA TVKS------RWSGSQQVEQPTGSVLW
Mouse SNNIFLHEGLTVKIGDFGLA TVKS------RWSGSQQVEQP
Rat SNNIFLHEGLTVKIGDFGLA TVKS------RWSGSQQVEQP
Bovine SNNIFLHEGLTVKIGDFGLA TVKS------RWSGSQQVEQP
Chicken SNNIFLHEGLTVKIGDFGLA TVKS------RWSGSQQVEQP
Xenopus laevis SNNIFLHEGLTVKIGDFGLA TVKT------RWSGSQQVEQL
Fission yeast DNQTFVWDS---RKPDKPLS LLKHGKTKMIHFDGANEEEVD
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
349 – 609 Protein kinase
471 – 471 Phosphoserine
491 – 491 Phosphothreonine
494 – 494 Phosphoserine
499 – 499 Phosphoserine; by PKC
491 – 491 T -> D. Increased kinase activity but can still be inhibited by PPP5C; when associated with D-494.
494 – 494 S -> D. Increased kinase activity but can still be inhibited by PPP5C; when associated with D-491.
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;
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.