Fig. 5.

Candidate mutations in patient 1. Top: Structure of PI3K-delta protein with functional domains and point mutation at position 1021 located in the catalytic domain. p85B = p85 binding domain, RBD = ras binding domain, C2 = C2 domain present in class I beta and delta PI3Ks, PI3Ka = accessory domain, PI3Kc = catalytic domain. Middle: Structure of TERT gene and upstream regulatory region showing two point mutations identified in the TERT promoter. Red arrow = transcription start site, ATG = coding sequence start site, ETS = ETS family transcription factor binding sites. Bottom: Candidate pathogenic mutations identified via targeted sequencing analysis of case 1 biopsy specimen by Heme-STAMP. Filtered depth = read depth of the variant allele