Fig. 1.

Variants in the GATA family members. Blue boxes represent the transcription activation domains (TADs), and red boxes indicate the Zinc finger domains (ZFN). Sanger sequencing data are displayed, and the variants are shown in the red frames. Alignment of amino acid residues adjacent to the variants shows a conservation among different species, including human, mouse, dog and zebrafish. a Human GATA4 protein domain with the variants identified in the TOF patients. The GATA4 protein is composed of four functional domains. V380 M is located in the second TAD, and P407Q is located near the second TAD. Sanger sequencing data are displayed, and the variants are shown in the red frames. Amino acid in 407 is conserved in human, mouse and dog but not in zebrafish. b Human GATA5 protein domain with the variants identified in the TOF patients. GATA5 protein also has four functional domains, and the two novel variants are not located in the functional domain. Sanger sequencing data are displayed, and the variants are shown in the red frames. c Human GATA6 protein domain with the variants identified in the TOF patients. The GATA6 protein has five functional domains, including two TADs, two ZNFs and one nuclear location signal (NLS), which is presented by the yellow box. The variants D111 N and H324Q are localized at the TAD1 and TAD2, respectively. The amino acid in 111 is highly conserved in human, mouse, dog and zebrafish