NOTCH1 and SF3B1 mutational analysis in the LRF CLL4 patients. (A) The distribution of mutations in NOTCH1. The NOTCH1 gene contains 34 exons and encodes a protein with a C-terminal TAD-PEST domain, which is a hotspot for mutation in CLL. Part of exon 34 is magnified and the location of each mutation is shown, along with evolutionary conservation of amino acids. (B) The distribution of missense mutations in SF3B1. The SF3B1 gene contains 25 exons and encodes a protein with a C-terminal domain consisting of 22 HEAT domains. Exons 14, 15, and 16 are magnified and the location of each mutation is shown. (C) The mutual relationship between NOTCH1 and SF3B1 mutations and other gene lesions in CLL. Rows correspond to specific genes and columns represent individual patients (only patients with either a NOTCH1 or SF3B1 mutation are shown). Boxes colored black and gray show the presence or absence of a mutation of NOTCH1 or SF3B1, with deletion of 11q, deletion or mutation of TP53, an unmutated IGHV sequence, deletion of 13q, or the presence of trisomy 12. A white box denotes that no data were available.