Figure 2.

Distribution of DDX41 mutations and concurrent mutations in other genes. (A) Distribution of DDX41 mutations detected in the current study and two previous studies (Quesada et al.¹⁰ and Sebert et al.¹¹). This figure shows the differences in positional distribution (N-terminal skewed vs. C-terminal skewed) and mutational effects (variable vs. missense-dominated) between germline and somatic mutations. The protein structure of DDX41 was based on the RefSeq accession number of NM_016222.3 and the UniProtKB entry of Q9UJV9: the 622 amino acid long protein comprises the helicase ATP-binding domain (position 212-396), the helicase C-terminal domain (position 407-567), and a zinc finger domain (position 580-597). Different colors indicate different effects of mutations: light blue, missense mutation; light green, inframe indel; purple, nonsense mutation; brown, splicing mutation; red, frameshift mutation; black, start codon loss. Different shapes represent the three studies: square, Sebert et al.¹¹ diamond, Quesada et al.¹⁰ circle, current study. (B) Concurrent mutations of other genes identified in bone marrow samples from DDX41-mutated patients. The types of genetic alterations and diseases are presented in the legend.