Figure 3.

DDX41 protein map based on 20 population studies.

A total of 239 germline variants and 188 somatic variants are presented here (one somatic splicing variant was excluded because of no available site information). For germline mutants, missense variants composed the largest part (n = 124, 52%), followed by frameshift (n = 76, 32%), nonsense (n = 20, 8%), splicing (n = 14, 6%), and last in-frame deletion/duplication (n = 5, 2%). The top five germline variants were p.D140fs (n = 39), p.M1I (n = 29), p.V152G (n = 12), p.Y259C (n = 10), p.A500fs (n = 7). They showed apparent difference in different countries: p.M1I and p.D140fs in the USA, p.V152G, p.Y259C and p.A500fs in Korea and China. For somatic variants, missense variants still contributed greatest (n = 181, 96%), followed by splicing (n = 3), frameshift (n = 2), nonsense (n = 2), and last in-frame deletion (n = 1). Different from diverse sites of frequent germline DDX41 mutants, the most common somatic variant was p.R525H, which accounted for 64% (n = 113) of the variants and was consistent in all countries. The other frequent somatic variants of DDX41 were p.T227M (n = 12), p.P321L (n = 9), and p.G530D (n = 6).

ATP, adenosine triphosphate; Znf, zinc finger.