Table 3.
Gene | Amino acid change | Type | Affected region/domain & possible effect |
---|---|---|---|
EZH2 | W15X | deletion | Interaction with DNMT1, DNMT3A and DNMT3B is lost |
FLT3 | E598DYVDFREYE | insertion | The region important for normal regulation of the kinase activity is lost. |
NPM1 | L287LCX | insertion | The region required for nucleolar localization is lost |
RAD21 | G274X | deletion | D->A: Abolishes cleavage by caspase-3 is lost |
BCORL1 | E1316 | deletion | Nuclear localization signal might get lost |