Figure 2.

Missense mutations in JAK1/JAK3/STAT5B genes cluster within the conserved JH2 (pseudokinase) and SH2 domains. Upper protein scheme: gene-wide distribution of missense mutations of JAK1 (A), JAK3 (B), and STAT5B (C); n = 87 T-PLL analyzed by WES/WGS, representing the same cases as in Figure 1B. Lower inset for each sub-panel A–C: frequencies of hotspot mutations, stratified for applied sequencing methods (n = 275 cases analyzed with WES/WGS/TAS/Sanger seq). While JAK1 and JAK3 were predominately affected by lesions within the pseudokinase domains (JH2) and the SH2-JH2 linker regions, STAT5B missense mutations were presented mostly in the SH2 domain.