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
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
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
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC400096 | R132H | 132 | c. 395 | G to A | missense |
| RC400097 | R132C | 132 | c. 384 | C to T | missense |
| RC400098 | R132L | 132 | c. 395 | G to T | missense |
| RC400099 | R132S | 132 | c. 394 | C to A | missense |
| RC400100 | R132G | 132 | c. 394 | C to G | missense |
