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HomeAll Cancer Mutant ClonesIDH1 Mutants

Description of the mutations of IDH1 (NM_005896) Mutants

Reference:

IDH1 and IDH2 Mutations in Gliomas
N. Engl. J. Med., Feb 2009; 360: 765 - 773.

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
RC400096 R132H132c. 395G to Amissense
RC400097 R132C132c. 394C to Tmissense
RC400098 R132L132c. 395G to Tmissense
RC400099 R132S132c. 394C to Amissense
RC400100 R132G132c. 394C to Gmissense

 

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