Figure 1.

Overview of STXBP1 variants. (A) Recurrent STXBP1 variants found in five or more individuals. (B) The STXBP1 protein (top) and gene (bottom), highlighting a selection of recurrent variant hotspots. The proportion of STXBP1 disorder-associated versus population variants is shown below, highlighting (grey) regions in which the difference is significant. (C) Distribution of variant types. Splice site, frameshift variants and whole and partial gene deletions were included in the PTV/del group.