Department of Medical Genetics
The RAS/MAPK Syndromes Homepage
Functional Implication and Patient's Phenotype in Mutations in the KRAS Gene
Updated on July 25,
2008
Exon Nucleotide change Mutation Functional implication Phenotype References Mutations in somatic cancer
2 c.15>T p.K5N   dCostello [Zenker et al. 2006] p.K5N
2   p.K5E   dCostello [Nava et al. 2007]  
2   p.G12S   CFC [Nava et al. 2007] G12S
2 c.40G>A p.V14I a NS [Schubbert et al. 2006] p.V14I
2 c.40G>A p.V14I a NS [Schubbert et al. 2006] p.V14I
2 c.40G>A p.V14I a NS [Schubbert et al. 2006] p.V14I
2 c.40G>A p.V14I   NS [Zenker et al. 2006] p.V14I
2 c.40G>A p.V14I   NS [Nava et al. 2007] p.V14I
2 c.40G>A p.V14I   NS [Nava et al. 2007] p.V14I
2 c.64C>G p.Q22E   CFC [Zenker et al. 2006] p.Q22K
2 c.65A>G p.Q22R   Severe NS [Zenker et al. 2006] p.Q22R
2 c.101C>G p.P34R   CFC [Schubbert et al. 2006] ―
2 c.101C>T p.P34L   NS [Zenker et al. 2006] ―
2 c.101C>A p.P34Q   NS [Zenker et al. 2006] ―
2 c.108A>G p.I36M   NS [Zenker et al. 2006] ―
3 c.173C>T p.T58I a NS/JMML [Schubbert et al. 2006] ―
3 c.173C>T p.T58I   NS [Nava et al. 2007] ―
3 c.173C>T p.T58I   dCostello [Nava et al. 2007] ―
3 c.178G>C p.G60R b CFC [Niihori et al. 2006] p.G60A
3 c.178G>C p.G60R b CFC [Zenker et al. 2006] p.G60A
6 c.455T>G p.V152G   NS/Costello [Carta et al. 2006] ―
6 c.458A>T p.D153V c CFC [Niihori et al. 2006] ―
6 c.458A>T p.D153V c CFC [Niihori et al. 2006] ―
6 c.458A>T p.D153V c NS [Schubbert et al. 2006] ―
6 c.458A>T p.D153V c NS/CFC [Carta et al. 2006] ―
6 c.458A>T p.D153V c NS [Zenker et al. 2006] ―
6 c.458A>T p.D153V c NS [Zenker et al. 2006] ―
6 c.466T>A p.F156I   NS/CFC [Zenker et al. 2006] ―
6 c.466T>A p.F156I   NS [Nava et al. 2007] ―
6 c.468C>G p.F156L   dCostello [Zenker et al. 2006] ―
Total       30    
NS, Noonan syndrome
a Reduced intrinsic GTPase activity, hypersensitivity of CFU-GM growth in response to GM-CSF in hematologic progenitor cells and increased MEK in COS7 cells.
b No activation of ELK transactivation in NIH3T3 cells
c Induced ELK transactivation in NIH3T3 cells
d Recent ly, it is recommended that HRAS mutation-positive patients should be classified as Costello syndrome (Kerr et al.Am J Med Genet A. 2008 146A(9):1218-20).