Figure 2.
GNAO1 mutations in patients with ALL or other diseases. (A) The type and position of each GNAO1 mutation with or without the ETV6-RUNX1 (E/V) fusion identified are shown. R209C, R243C, and Q307R mutations in a patient with E/R fusion ALL, A166T mutation in a patient with non-E/R fusion ALL, T329M mutation in a patient with acute leukemia of ambiguous lineage, K317K mutation in a patient with AML, G184S and G203R mutation in patients with early infantile epileptic encephalopathy,15,16 R243H mutation in a patient with breast cancer,20 and Q205L mutation with NIH-3T3 transformation.18 (B) Allele frequency analysis of new GNAO1 mutations by deep genomic sequencing in the specimens identified, corresponding to supplemental Table 2.