Fig. 1.

Schematic of ZNF469 protein, showing the proline-rich and arginine-rich domains, and the 7 C2H2 zinc fingers towards the C-terminus. The newly identified nonsense and missense mutations, and the SNP variant are depicted in bold. The 4 previously reported mutations are depicted with the updated nomenclature according to the finding showing that ZNF469 is a single exon gene. Nonsense mutations are likely to evade nonsense mediated decay and predict a truncated protein.