Table 2 Mutations identified by capillary sequencing of 95 CN-AML patients

From: Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

Gene Position (hg18) Reference genotype Tumor genotype Amino acid Ensembl protein Number of pat. (ID#) Additional mutations
TLE4 chr9:81511889 G/G G/A Arg → His (R323 H) ENSP00000365710 1 (1) NPM1
TLE4 chr9:81514412 A/A A/G Thr → Ala (T431A) ENSP00000365735 1 (2) C/EBPA
SHKBP1 chr19:45786394 G/G G/A Arg → Gln (R454Q) ENSP00000291842 1 (3) FLT3-ITD
SHKBP1 chr19:45788844 G/G G/A Arg → Gln (R672Q) ENSP00000291842 1 (4) NPM1
RUNX1 chr21:35181194 A/A A/G Leu → Ser (L56S) ENSP00000300305 1 (5) FLT3-ITD MLL-PTD
RUNX1 chr21:35181042 G/G A/A Arg → Cys (R107C) ENSP00000300305 1 (6) FLT3-ITD
RUNX1 chr21:35181032 T/T T/C Lys → Arg (K110R) ENSP00000300305 1 (7)
RUNX1 chr21:35174747 C/C T/T Arg → Lys (R162 K) ENSP00000300305 1 (8) MLL-PTD
RUNX1 chr21:35174739 C/C C/A Gly → Cys (G165C) ENSP00000300305 1 (9) FLT3-ITD MLL-PTD
RUNX1 chr21:35174846
chr21:35174847
A/A
G/G
−/5bp Insertion Frame shift (L129fs) ENSP00000300305 1 (10)
RUNX1 chr21:35153730 A/A A/G Leu → Pro (L175P) ENSP00000300305 1 (11) FLT3-ITD NRAS
RUNX1 chr21:35153661 T/T T/A Asp → Val (D198 V) ENSP00000300305 1 (12)
RUNX1 chr21:35153662 C/C C/T Asp → Asn (D198N) ENSP00000300305 1 (7)
RUNX1 chr21: 35153652 C/C C/T Arg → Gln (R201Q) ENSP00000300305 1 (12)
RUNX1 chr21: 35153653 G/G G/A Arg → Stop (R201X) ENSP00000300305 1 (13) FLT3 D324
  1. Abbreviation: CN-AML, cytogenetically normal acute myeloid leukemia. The table shows details of the 15 mutations (affecting 13 patients) identified by capillary sequencing of RUNX1, TLE4 and SHKBP1 in 95 CN-AML patients, including affected genes, genomic position, resulting amino-acid change and Ensembl protein.