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HomeAll Cancer Mutant ClonesGATA1 Mutants

Description of the mutations of GATA1 (NM_002049) 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
RC402610 V205M205613G>ADyseryhropoiei nemi nd hromboyopeni
RC402611 G208R208622G>ADyseryhropoiei nemi nd hromboyopeni
RC402612 R216Q216647G>AThromboyopeni 1
RC402613 R216W216646C>TPorphyri, onenil eryhropoiei
RC402614 D218G218653A>GThromboyopeni 1
RC402615 D218Y218652G>TThromboyopeni 1


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