Figure 1.

Heterozygous mutations in SF3B1 found in six MDS patients. (A) Chromatograms of regions of exons 14 and 15 presenting nucleotide substitutions that lead to amino acid changes in the SF3B1 protein; one patient exhibited an E622D substitution, another one, a K666R, and four patients presented the most common described substitution, K700E. (B) Representation of the impact of each amino acid substitution on the protein structure and function, as well as a predicted score ranging from 0 to 1, in which 1 represents the higher probability of damaged protein.