Figure 1

Four novel POU4F3 variants within the functional DNA-binding domains. Two (p.Ala189SerfsTer26 in SB218 and p.Leu248Pro in SB307) were located in the POU-specific domain, while the remaining two (p.Phe293Leu in SB438 and p.Val318Met in SB347) were in the POU-homeodomain. Conservation of the affected residues among species was documented for all POU4F3 variants identified in the study.