Transmembrane domain and kinase 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 . |
|---|---|---|---|---|---|---|---|---|---|
| CSK | W377C | KD | NM 004383.1 | No | No | No | Yes | 1 | AML145 |
| MATK | L349F | KD | NM 002378.2 | No | No | No | Yes | 1 | AML144 |
| MATK | A356T | KD | NM 002378.2 | No | No | No | Yes | 1 | AML145 |
| MST1R | R825C | KD | NM 002447.1 | No | No | No | Yes | 1 | AML41 |
| EPHB2 | A550T | TM | NM 017449.3 | Not tested | No | No | Yes | 1 | AML133 |
| INSRR | G918R | TM | NM 014215.1 | Not tested | No | No | Yes | 1 | AML120 |
| INSRR | P928H | TM | NM 014215.1 | Not tested | No | No | Yes | 1 | AML132 |
| PDGFRB | T464M | TM | NM 002609.3 | No | No | No | Yes | 2 | AML93, AML90 |
| 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 . |
|---|---|---|---|---|---|---|---|---|---|
| CSK | W377C | KD | NM 004383.1 | No | No | No | Yes | 1 | AML145 |
| MATK | L349F | KD | NM 002378.2 | No | No | No | Yes | 1 | AML144 |
| MATK | A356T | KD | NM 002378.2 | No | No | No | Yes | 1 | AML145 |
| MST1R | R825C | KD | NM 002447.1 | No | No | No | Yes | 1 | AML41 |
| EPHB2 | A550T | TM | NM 017449.3 | Not tested | No | No | Yes | 1 | AML133 |
| INSRR | G918R | TM | NM 014215.1 | Not tested | No | No | Yes | 1 | AML120 |
| INSRR | P928H | TM | NM 014215.1 | Not tested | No | No | Yes | 1 | AML132 |
| PDGFRB | T464M | TM | NM 002609.3 | No | No | No | Yes | 2 | AML93, AML90 |