Figure 1.

Schematic diagram of AATF protein structure and location of observed missense variant. Structure and main functional domains of AATF are shown. Leucine zipper motif location (aa 275-296) is marked in dark grey, with the basic domain in horizontal stripes (aa 133-145). Nuclear translocation signal is shown in diagonal stripes (aa 338-344). Three nuclear receptor binding motifs are marked in light grey (aa 11-15, 281-285, 520-524). The location of the observed amino acid alteration is shown by an arrow (functional domain structure modified mainly from reference [9]).