Table 5 Summary of CEBPA mutations detected in 21 acute myeloid leukemia patients
From: Germline mutations among Polish patients with acute myeloid leukemia
Mutation status | Mutation 1 | Mutation 2 (Mutation 3) | No. of patients | ||||
|---|---|---|---|---|---|---|---|
N-terminal AA 1-120 | Middle AA 121–277 | C-terminal AA 278–358 | N-terminal AA 1-120 | Middle AA 121–277 | C-terminal AA 278–358 | ||
CEBPA-single | p.Ala113ArgfsTer54* | 1 | |||||
p.Ala134= | 1 | ||||||
p.His191= | 1 | ||||||
p.Pro198_Ala199dup* | 4 | ||||||
p.Thr230=* | 11 | ||||||
CEBPA-double | p.Gly96AlafsTer56 | p.Thr230=* | (p.Lys313dup) | 1 | |||
p.Ser61ValfsTer47 | p.Thr230=* | 1 | |||||
p.Phe179Ser | p.Thr230=* | 1 | |||||