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HomeAll Cancer Mutant ClonesACVR1 Mutants

Description of the mutations of ACVR1 (NM_001105) 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
RC402551 R206H206617G>AFibrodysplasia ossificans progressiva
RC402552 Q207E207619C>GFibrodysplasia ossificans progressiva
RC402553 R258S258774G>CFibrodysplasia ossificans progressiva
RC402554 G328E328983G>AFibrodysplasia ossificans progressiva
RC402555 G328R328982G>AFibrodysplasia ossificans progressiva
RC402556 G328R328982G>CFibrodysplasia ossificans progressiva
RC402557 G328W328982G>TFibrodysplasia ossificans progressiva
RC402558 G356D3561067G>AFibrodysplasia ossificans progressiva
RC402559 R375P3751124G>CFibrodysplasia ossificans progressiva


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