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Description of the mutations of HRAS (NM_005343) Mutants


Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Nat. Genet. 2005; 37:1038-1040

Keys for Mutation Description

A.A. substitution
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted


SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffectAffected Protein Domain
RC400125 G12D12c.35G>AmissenseGTP binding
RC400126 G12S12c.34G>AmissenseGTP binding
RC400127 G12R12c.34G>CmissenseGTP binding
RC400128 G12C12c.34G>TmissenseGTP binding
RC400129 G12V12c.35G>TmissenseGTP binding
RC400130 Q61H61c.183G>TmissenseGTP binding
RC400131 Q61L61c.182A>TmissenseGTP binding
RC400132 Q61R61c.182A>GmissenseGTP binding
RC400133 Q61K61c.181C>AmissenseGTP binding
RC400134 G13C13c.37G>TmissenseGTP binding
RC400135 G13R13c.37G>CmissenseGTP binding
RC400136 E62G62c.185A>GmissenseGTP binding
RC402764 G12A1235G>CCosello syndrome 
RC402765 G12D1235G>ACosello syndrome 
RC402766 G12S1234G>ACosello syndrome 
RC402767 G12C1234G>TCosello syndrome 
RC402768 G13D1338G>ACosello syndrome 
RC402769 G13C1337G>TCosello syndrome 
RC402770 Q22K2264C>AConenil myophy wih exess of musle spindles 
RC402771 T58I58173C>TCosello syndrome 
RC402772 E63K63187G>AConenil myophy wih exess of musle spindles 
RC402773 K117R117350A>GCosello syndrome 
RC402774 A146V146437C>TCosello syndrome 
RC402775 A146T146436G>ACosello syndrome 


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