Diagrammatic representation of proteins encoded by wild-type and mutant

CEBPA alleles. White and black boxes represent wild-type CEBPA sequence and gray boxes a shift of the reading frame encoding a novel peptide until formation of stop codon. The black boxes shows functional domains (TAD1, TAD2, bZIP), and the arrows show the 2 ATG initiation codon. (A) Proteins encoded by the 12 N-terminal mutants. (B) Proteins encoded by the 8 C-terminal mutants. Notably, mutation in patient 8′ affected only the 30-kDa form because of the presence of a N-terminal mutation (patient 8, panel A) on the same allele inducing an alteration of the 42-kDa protein. (C) Proteins encoded by the 2 middle large deletion mutants.