Gene mutations in AML acquired in addition to the germline CBL mutation and the chromosomal aberrations
| Gene . | Gene localization . | Mutation . |
|---|---|---|
| ADAM12 | 10q26 | NM_003474: c.665C>T, p.A222V* |
| ARF3 | 12q13 | NM_001659: c.302A>G, p.N101S |
| CAND1 | 12q14 | NM_018448: c.1750G>T, p.E584X |
| CMIP | 16q23 | NM_030629: c.968C>T, p.T323M* |
| DOCK6 | 19p13.2 | NM_020812: c.5616_5617insCCG, p.R1872_K1873insP |
| KIF14 | 1q32.1 | NM_014875: c.1021G>A, p.V341I |
| MIOX | 22q13.3 | NM_017584: c.673T>C, p.W225R* |
| MYOCD | 17p11.2 | NM_153604: c.847G>A, p.D283N* |
| NID2 | 14q22.1 | NM_007361: c.955G>A, p.D319N |
| PRSS16 | 6p21 | NM_005865: c.1471C>T, p.R491C* |
| PTPRT | 20q12-q13 | NM_007050: c.2531C>T, p.T844M* |
| TMEM125 | 1p34.2 | NM_144626: c.337G>A, p.D113N* |
| Gene . | Gene localization . | Mutation . |
|---|---|---|
| ADAM12 | 10q26 | NM_003474: c.665C>T, p.A222V* |
| ARF3 | 12q13 | NM_001659: c.302A>G, p.N101S |
| CAND1 | 12q14 | NM_018448: c.1750G>T, p.E584X |
| CMIP | 16q23 | NM_030629: c.968C>T, p.T323M* |
| DOCK6 | 19p13.2 | NM_020812: c.5616_5617insCCG, p.R1872_K1873insP |
| KIF14 | 1q32.1 | NM_014875: c.1021G>A, p.V341I |
| MIOX | 22q13.3 | NM_017584: c.673T>C, p.W225R* |
| MYOCD | 17p11.2 | NM_153604: c.847G>A, p.D283N* |
| NID2 | 14q22.1 | NM_007361: c.955G>A, p.D319N |
| PRSS16 | 6p21 | NM_005865: c.1471C>T, p.R491C* |
| PTPRT | 20q12-q13 | NM_007050: c.2531C>T, p.T844M* |
| TMEM125 | 1p34.2 | NM_144626: c.337G>A, p.D113N* |
All mutations were identified by whole-exome sequencing of bone marrow mononuclear cells from the AML. Their presence and somatic origin were validated by Sanger sequencing of AML and skin fibroblasts. The information on gene localization is based on Entrez Gene.
Missense mutations that are “probably damaging” according to PolyPhen-2 (v2.2.2r398, HumDiv-trained model).