Figure 1.

Electropherograms of all DNMT3A variations including synonymous and nonsynonymous variations observed in this study (a) and schematic summary representing locations and frequency of all detected DNMT3A variations (b). Note: (a) shows electropherogram of all detected DNMT3A variations in 39 patients included in the first study cohort. (b) shows schematic summary of all detected DNMT3A variation including location and frequency. The number of circles indicates the frequency of detected variations. Closed black and white circle indicates heterozygous nonsynonymous and synonymous variation case, respectively, and closed double-layered white circle indicates homozygous synonymous variation case. Abbreviations: P, proline; I, isoleucine; M, methionine; R, arginine; H, histidine; L, leucine; E, glutamate; V, valine; K, lysine; PWWP, Pro-Trp-Trp-Pro motif; ZNF, zinc finger; MeTFase, methyltransferase.