Table 3

C/EBPA mutations in normal-karyotype AML patients

PatientAge, yFABBase pair changeAmino acid change
136.5M1744-745GC>TTA199L
1′M11167G>AG339S
240M2563-564insCGY138fsX160
2′M21094-1095insCTGL315-316ins
357.8M2327-328insCE59fsX107
3′M21098-1099insGTCV316-317ins
424M2551G>AA134A
4′M2742-743insGCCGCCCCP199fsX318
538.5M2236-237insGCA29fsX160
652.8M2395delF82fsX159
6′M21076-1077insAAGK309-310ins
747M1212C>AS21Q
7′M1213delP22fsX159
7″M11088-1089insTCTS313-314ins
853.1M11083C>TQ312X
933M2672C>GL175V
9′M2676C>TA176V
9″M2678-679GG>TTG177F
9‴M2683C>TL178L
9‴′M2688C>AP180H
9‴″M2692C>GY181X
10*22.1M11079-1080insTCTS310-311ins
1151.5M2392-393insTA91fsX107
1244.8M2327-328insCE59fsX107
12′M21098-1099insGTCV316-317ins
  • NOTE. afsXb indicates a frame-shift mutation of the amino acid at position “a” inducing a stop codon at position “b”.

    Abbreviation: FAB, French American British classification.

  • * Patient 11 had homozygous insertion.