Fig. 3: Spectrum of somatic EIF6 mutations in SDS hematopoietic cells.

a Spectrum of 66 mutations and their corresponding VAFs identified by ultra-deep sequencing in 24 SDS patients. b Waterfall plot of the 66 mutations highlighting the recurrently impacted residues. N106S and G14S (highlighted in red on the left) represent gain-of-function mutations identified in Sdo1-deleted yeast cells²⁵. Gender of patients, the origin of DNA, and the method of EIF6 capture for deep-sequencing are indicated. Purple cases represent synonymous mutations. Colors denote the type of mutation as listed in the inset (upper right corner). c Lolliplot showing the distribution of mutations in eIF6.