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HomeAll Cancer Mutant ClonesPAK3 Mutants

Description of the mutations of PAK3 (NM_002578) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
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
RC402624 R67C67199C>TMental retardation syndrome, X-linked
RC402625 A365E3651094C>AMental retardation syndrome, X-linked
RC402626 R419X4191255C>TMental retardation syndrome, X-linked
RC402627 W446S4461337G>CMental retardation syndrome, X-linked

 

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