Figure 1: A missense mutation of the GATA4 gene identified in patients with NOA. (a) Schematic diagram shows the functional domains of GATA4: N-terminal TADs, the DNA-binding domain-containing two ZFs, and the NLS. The location of the p.G64E heterozygous mutation in the first TAD is marked by an asterisk (*) and the Sanger sequence diagram is shown. (b) Sequence alignment surrounding the mutation site shows conservation of amino acid 64 in mammals (highlighted with a red box). GATA4: GATA-binding protein 4; WT: wild-type; MT: mutant; NOA: nonobstructive azoospermia; ZF: zinc-finger; TAD: transcription activation domain; NLS: nuclear localization signal.