Fig. 2

A schematic diagram of the mutation in PAK3. Boxes in gray/white with numbers are the exons. Square boxes with dotted lines are untranslated regions. The green frame represents the PBD/AID. The blue frame shows the KD. The dark blue strip shows the microdeletion. The red dot indicates the phosphorylation site at Thr421. The arrows point to the known mutation sites. The missense mutations are listed above the diagram, and the truncation mutations are listed below. The bold red arrow indicates the mutation detected in the present study