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HomeAll Cancer Mutant ClonesMAP2K1 Mutants

Description of the mutations of MAP2K1 (NM_002755) Mutants

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#DescriptionEffect
RC402649 E44G44131A>GNoonan syndrome ?
RC402650 F53S53158T>CCardio-facio-cutaneous syndrome
RC402651 T55P55163A>CCostello syndrome
RC402652 D67N67199G>ACardio-facio-cutaneous syndrome
RC402653 P124L124371C>TCardio-facio-cutaneous syndrome
RC402654 P124Q124371C>ACardio-facio-cutaneous syndrome
RC402655 G128v128383G>TCardio-facio-cutaneous syndrome
RC402656 Y130C130389A>GCardio-facio-cutaneous syndrome
RC402657 Y130N130388T>ACardio-facio-cutaneous syndrome
RC402658 E203Q203607G>CCardio-facio-cutaneous syndrome


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