Figure 2.
Genetic characteristics of DDX41MutGL AML (n = 191). (A) Germline (top) and somatic (bottom) DDX41 variants identified in the present study. Functional domains are shown. Null variants (nonsense, frameshift, canonical ± 1 or 2 splice sites, and initiation codon) are in red; other variants (missense and inframe) are in blue. The figure was made with the PECAN online tool.48 (B) Proportions of the most common DDX41MutGL mutations identified in this study (only variants found in at least 3 patients are shown). (C) Proportions of DDX41MutSom mutations in patients with AML grouped according to the type of DDX41MutGL mutations. (D) Molecular and cytogenetic characteristics of the DDX41MutGL patients at AML diagnosis according to the cohort.