Fig. 1.

Reported variants in the SAND domain of DEAF1. Multispecies alignment of the SAND domain in the DEAF1 protein isoforms of human, rat, mouse, zebrafish and drosophila (major protein isoforms displayed). Arrows depict DEAF1-SAND domain residues with reported variants, including our novel variant in gray highlight. All variants are reported as heterozygous de novo, except for R226 W which was reported to occur homozygous in two independent families. Amino acids with similar properties are marked in italic underlined print, and dissimilar amino acids are marked in bold underlined