Figure 1.
Prevalence of DDX41 germ line variants in the UKB and impact of ancestry. (A) Numbers and types of DDX41 germ line variants identified in the UKB. The pie chart subclassifies the 452 unique nonsynonymous variants. (B) Lolliplot depicting the location and frequency of nonsynonymous germ line DDX41 variants that are either known to be pathogenic (see “Methods”) or present in ≥3 participants. Variants are depicted above or below the protein sequence for clarity of representation only. The frequency of each variant in UKB is reflected in its lollipop height and is also entered numerically next to each variant. Different types of variants are distinguished by their color and the presence/absence of a black border, as per the key. (C) Differences in the prevalence of common DDX41 nonsynonymous variants (with a frequency ≥ 0.0001 in participants of European or non-European ancestry) between individuals with European (lavender) vs non-European (green) ancestry. Asterisks mark variants displaying a significantly different distribution among the 2 ancestries compared to the full cohort (P-adjusted < .05; P values adjusted according to Bonferroni correction for 66 tests).