Figure 1.

Human GATA2 coding mutations. GATA2 mutations that are designated “pathogenic,” “likely pathogenic,” and “uncertain significance” and their corresponding protein sequences. Top, GATA2 protein sequence depicting mutations external to the zinc finger domain. Bottom, enlargement of GATA2 zinc finger domain illustrating amino acids affected by mutations. Reported mutations are indicated in pink. N-ZF, N-finger; INT-ZF, inter-zinc finger spacer; C-ZF, C-finger. N- and C-fingers are also referred to as Zf1 and Zf2, respectively.