AML1 point mutations identified in AML and MDS. Horizontal bars show the AML1 protein diagrammatically (453 aa), indicating the Runt domain (50-177), the trans-activation domain (291-371), and the suppression domain (446-453). AML1 is divided into N-terminal and C-terminal regions. Case numbers (Table 1) with AML1 mutations are indicated according to disease categories (sporadic AML, sporadic MDS, secondary AML, and secondary MDS). Numbers in white circles indicate missense/silent mutations, and numbers in squares indicate frame-shift/nonsense mutations.