Results for the protein: P04049

Results for the Protein: P04049

125651

5894

RAF1

NCBI, UniProt

RAF1_HUMAN RecName: Full=RAF proto-oncogene serine/threonine-protein kinase; AltName: Full=Proto-oncogene c-RAF; Short=cRaf; AltName: Full=Raf-1

Known Diseases associated with this Protein:
  LEOPARD SYNDROME 2
  LEOPARD SYNDROME 2, INCLUDED
  NOONAN SYNDROME 5
  NOONAN SYNDROME 5 (NS5)
  NOONAN SYNDROME 5, INCLUDED

18

4

4

1

17

Tips:

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Default View: RBD - smart00455 C1 - smart00109 STYKc - smart00221 TyrKc - smart00219 Pkinase_Tyr - pfam07714 S_TKc - smart00220 KIND - smart00750	Swiss-Prot Protein: P04049 Identical to: NP_002871 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C1	smart00109	2.8e-14	139	184
Pkinase_Tyr	pfam07714	1.7e-61	349	606
TyrKc	smart00219	4.9e-47	349	606
STYKc	smart00221	1.2e-46	349	614
S_TKc	smart00220	7.6e-51	359	608
KIND	smart00750	3.5e-06	427	641

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_037807	Disease	p.ARG256SER	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037817	Disease	p.ASP486ASN	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037816	Disease	p.ASP486GLY	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_041038	Polymorphism	p.GLN335HIS	N/A
Swiss-Prot	VAR_037821	Disease	p.LEU613VAL	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037812	Disease	p.PRO261ALA	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037813	Disease	p.PRO261LEU	Noonan syndrome 5 (NS5)
dbSNP	rs5746220	Polymorphism	p.PRO308LEU	N/A
Swiss-Prot	VAR_037814	Disease	p.PRO261SER	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_041037	Polymorphism	p.SER259ALA	N/A
Swiss-Prot	VAR_037808	Disease	p.SER257LEU	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037809	Disease	p.SER259PHE	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037820	Disease	p.SER612THR	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037811	Disease	p.THR260ARG	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037819	Disease	p.THR491ARG	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037810	Polymorphism	p.THR260ILE	N/A
Swiss-Prot	VAR_037818	Disease	p.THR491ILE	Noonan syndrome 5 (NS5)
Swiss-Prot	VAR_037815	Disease	p.VAL263ALA	Noonan syndrome 5 (NS5)
OMIM	164760.0004	Disease	p.LEU613VAL	LEOPARD SYNDROME 2\|\|NOONAN SYNDROME 5, INCLUDED
OMIM	164760.0002	Disease	p.PRO261SER	NOONAN SYNDROME 5
OMIM	164760.0001	Disease	p.SER257LEU	NOONAN SYNDROME 5\|\|LEOPARD SYNDROME 2, INCLUDED
OMIM	164760.0003	Disease	p.THR491ARG	NOONAN SYNDROME 5

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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