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. 2014 Jul 7;3(7):e111. doi: 10.1038/oncsis.2014.25

Figure 2.

Figure 2

The DNMT3A p.G728D mutation observed in this thymoma sample is visualized in the context of other DNMT3A mutations observed in AML genome sequences from TCGA. The protein sequence and functional domains are depicted on the x axis. The number of AML mutations is depicted on the y axis. Red circles correspond to truncating mutations. Green circles correspond to missense mutations. Circle height corresponds to the number of mutations per position, however, the G728D indicator (black) is only meant to indicate position of this mutation. Note the clustering of AML nonsynonymous mutations around position 728. Mutations in this region reduce DNMT3A activity by disrupting the interaction between DNMT3L and DNMT3A. The Sanger sequencing validation trace of p.G7238D is also shown, demonstrating validation of p.G7238D as a homozygous somatic mutation.