Figure 2

(a) The POU4F3 p.Lys328 indicated in red shading was located within the bipartite nuclear localization signal (NLS) in the POU homeodomain. The bipartite NLS was conserved across nine species. (b) The location of six reported POU4F3 missense variants and p.Lsy328Glu. POU-specific domain and POU homeodomain are indicated by black boxes. Two NLSs were indicated by red lines. (c) The predicted protein products of five reported POU4F3 frameshift variants. Boxes with slash indicate the new amino acid sequences after the frameshift.