Figure 3.

Protein domain structure and location of amino acids affected by mutations in ASXL1, ASXL2, and ASXL3. Only nonsense or frameshift mutations are shown for each protein here. Mutations shown in black triangles are previously reported as germline mutations in Bohring–Opitz syndrome (ASXL1) or Bohring–Opitz-like syndrome (ASXL3), whereas mutations in red, blue, or green triangles have been reported as somatic mutations in ASXL1, ASXL2, or ASXL3, respectively. For ASXL1, only somatic mutations that have been described in more than one patient or as a germline mutation are shown.