Activation loop and juxtamembrane domain mutations in AML
| Gene . | Mutation . | Domain . | Reference sequence . | IL-3–independent growth . | In SNP database . | Allele in COSMIC . | Somatic mutations in COSMIC . | No. of cases with allele . | Sample . |
|---|---|---|---|---|---|---|---|---|---|
| BMX | R540H | AL | NM 001721.4 | No | No | No | Yes | 1 | AML85 |
| EGFR | G857V | AL | NM 005228.3 | No | No | No | Yes | 1 | AML92 |
| FES | Y734H | AL | NM 002005.2 | No | No | No | No | 1 | AML26 |
| FLT3 | G831E | AL | NM 004119.1 | No | No | No | Yes | 1 | AML141 |
| FLT3 | R834Q | AL | NM 004119.1 | Yes | No | No | Yes | 1 | AML29 |
| HCK | A370T | AL | NM 002110.2 | No | No | No | Yes | 1 | AML137 |
| LTK | R682W | AL | NM 002344.3 | No | No | No | Yes | 1 | AML190 |
| MATK | R379Q | AL | NM 002378.2 | No | No | No | Yes | 1 | AML125 |
| MST1R | R1263X | AL | NM 002447.1 | No | No | No | Yes | 1 | AML121 |
| TYRO3 | C690R | AL | NM 006293.2 | No | No | No | Yes | 1 | AML145 |
| YES1 | M505V | AL | NM 005433.3 | No | No | No | No | 1 | AML179 |
| DDR1 | T460M | JM | NM 013994.2 | No | No | No | Yes | 1 | AML145 |
| DDR1 | N502S | JM | NM 013994.2 | No | No | No | Yes | 3 | AML2, AML38, AML59 |
| DDR1 | A533S | JM | NM 013994.2 | No | No | No | Yes | 1 | AML32 |
| EPHA1 | R584C | JM | NM 005232.3 | Not tested | No | No | Yes | 1 | AML1 |
| EPHA6 | P101Q | JM | NM 173655.2 | Not tested | No | No | Yes | 1 | AML31 |
| EPHA8 | P607H | JM | NM 020526.3 | Not tested | No | No | Yes | 2 | AML37, AML67 |
| EPHB2 | D617N | JM | NM 017449.3 | Not tested | No | No | Yes | 1 | AML131 |
| FGFR3 | P449S | JM | NM 000142.2 | No | No | No | Yes | 1 | AML89 |
| MET | T1010I (T992I) | JM | NM 000245.2 | Not tested | No | No | Yes | 2 | AML11, AML14 |
| ROR2 | R528Q | JM | NM 004560.2 | Not tested | No | No | Yes | 3 | AML60, AML63, AML107 |
| TEK | G743A | JM | NM 000459.2 | No | No | No | Yes | 1 | AML172 |
| Gene . | Mutation . | Domain . | Reference sequence . | IL-3–independent growth . | In SNP database . | Allele in COSMIC . | Somatic mutations in COSMIC . | No. of cases with allele . | Sample . |
|---|---|---|---|---|---|---|---|---|---|
| BMX | R540H | AL | NM 001721.4 | No | No | No | Yes | 1 | AML85 |
| EGFR | G857V | AL | NM 005228.3 | No | No | No | Yes | 1 | AML92 |
| FES | Y734H | AL | NM 002005.2 | No | No | No | No | 1 | AML26 |
| FLT3 | G831E | AL | NM 004119.1 | No | No | No | Yes | 1 | AML141 |
| FLT3 | R834Q | AL | NM 004119.1 | Yes | No | No | Yes | 1 | AML29 |
| HCK | A370T | AL | NM 002110.2 | No | No | No | Yes | 1 | AML137 |
| LTK | R682W | AL | NM 002344.3 | No | No | No | Yes | 1 | AML190 |
| MATK | R379Q | AL | NM 002378.2 | No | No | No | Yes | 1 | AML125 |
| MST1R | R1263X | AL | NM 002447.1 | No | No | No | Yes | 1 | AML121 |
| TYRO3 | C690R | AL | NM 006293.2 | No | No | No | Yes | 1 | AML145 |
| YES1 | M505V | AL | NM 005433.3 | No | No | No | No | 1 | AML179 |
| DDR1 | T460M | JM | NM 013994.2 | No | No | No | Yes | 1 | AML145 |
| DDR1 | N502S | JM | NM 013994.2 | No | No | No | Yes | 3 | AML2, AML38, AML59 |
| DDR1 | A533S | JM | NM 013994.2 | No | No | No | Yes | 1 | AML32 |
| EPHA1 | R584C | JM | NM 005232.3 | Not tested | No | No | Yes | 1 | AML1 |
| EPHA6 | P101Q | JM | NM 173655.2 | Not tested | No | No | Yes | 1 | AML31 |
| EPHA8 | P607H | JM | NM 020526.3 | Not tested | No | No | Yes | 2 | AML37, AML67 |
| EPHB2 | D617N | JM | NM 017449.3 | Not tested | No | No | Yes | 1 | AML131 |
| FGFR3 | P449S | JM | NM 000142.2 | No | No | No | Yes | 1 | AML89 |
| MET | T1010I (T992I) | JM | NM 000245.2 | Not tested | No | No | Yes | 2 | AML11, AML14 |
| ROR2 | R528Q | JM | NM 004560.2 | Not tested | No | No | Yes | 3 | AML60, AML63, AML107 |
| TEK | G743A | JM | NM 000459.2 | No | No | No | Yes | 1 | AML172 |