Figure 1.

NOTCH2-mutation distribution in SMZL. A. Schematic representation of the human NOTCH2-gene (top) and the protein (bottom), with its key functional domains. B. Number of cases of mutation for diagnosis. Symbols indicate the type and position of the mutation. EGF: epithelial growth factor; LNR: NOTCH repeats; HD: heterodimerization; TM: transmembrane; RAM: regulation of amino acid metabolism; NLS: nuclear localization signal; TAD: transactivation domain; PEST: pro-line (P), glutamic acid (E), serine (S) and threonine (T) peptide sequence; SMZL: splenic marginal zone lymphoma; NICD: notch intracellular domain.