Figure 1. DNMT3A mutant cells dominates the blood without increase in mutation number or spectrum.
(A) Variant allele frequency (VAF) of DNMT3A c.2312G>A substitution (DNMT3AR771Q) measured by amplicon sequencing. 3 separate peripheral blood measurements were taken at the indicated years. (B) Summary of the number of base substitutions (covered ≥3X) for WT and LCL clones (C) Mutational signatures for WT and MUT clones that comprised at least 10% of the total signature classification. (D) Top: phylogenetic tree of the LCL clones constructed by identifying shared mutations. Branch lengths are proportional to the number of somatic mutations unique to each clone. DNMT3A-MUT clones are red. Bottom: zoom in of the x-axis (E) Phylogenetic tree of the LCL clones reflecting their representation in the PB with the VAF of key mutations indicated on the branches.