EZH2 schematic structure and localization of mutations. (A) Representation of EZH2 exons. Blue and purple bars correspond to exons encoding the SANT_DNA–binding domain and the SET domain, respectively. (B) Domain structure of EZH2 and positions of mutations carried by subjects. Missense mutations highlighted in the violet boxes (R288Q, N322S, R690H, and Y733X) have been described previously.^15,42