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HomeAll Cancer Mutant ClonesMAF Mutants

Description of the mutations of MAF (NM_005360) 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
RC402776 R288P288863G>CCataract, ocular anterior dysgenesis and coloboma
RC402777 K297R297890A>GCerulean cataract
RC402778 R299S299895C>ACataract-microcornea syndrome


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