GATA2 mutations. (A) Genomic organization of GATA2 showing the 2 5′-untranslated and 5 coding exons. Larger boxes represent coding regions. Insertion/deletion and nonsense mutations predicted to result in null alleles are shown above in red. Regulatory mutations in intron 5 are shown in blue. (B) Protein domains of GATA2, showing N- and C-terminal zinc fingers (ZF-1, ZF-2) and nuclear localization signal (N). (C) Missense mutations, in-frame deletions, and frameshift mutations predicted to escape nonsense-mediated decay are shown in green. Superscript numerals indicate the number of independent mutations.