Fig. 2

Locations and chromatograms of variants identified. a The functional protein domains of POGZ. Functional protein domains include zinc-finger domains (orange and yellow), a predicted proline-rich domain (red), CENP-B like DNA binding domain (green), DDE transposase domain (blue) and a coiled-coil domain (purple). The seven truncating mutations and one deleterious missense previously reported are indicated by stars above the predicted domains. b Truncating mutations identified in the current study are indicated at their respective locations on the protein with arrows, and the chromatograms displaying each mutation are presented below the details of the individual nucleotide and amino acid changes