NOTCH1 mutations identified in patients from 2 independent AML cohorts
| Patient no. . | AML cohort . | NOTCH1 mutation* . | Predicted amino acid change . |
|---|---|---|---|
| 2238 | First | 4741-4743del | In-frame deletion of M1581 |
| 3314 | First | 5036T>A, 7376ins37 bp | L1679Q, L2458fsX2463 |
| 2686 | First | 7552ins13 bp | P2518fsX2523 |
| 6947 | Second | 4790T>C | L1597P |
| 7053 | Second | 4820del22/ins13 bp | Mutation at aa 1607 FKRDAHGQ into SGRRP |
| Patient no. . | AML cohort . | NOTCH1 mutation* . | Predicted amino acid change . |
|---|---|---|---|
| 2238 | First | 4741-4743del | In-frame deletion of M1581 |
| 3314 | First | 5036T>A, 7376ins37 bp | L1679Q, L2458fsX2463 |
| 2686 | First | 7552ins13 bp | P2518fsX2523 |
| 6947 | Second | 4790T>C | L1597P |
| 7053 | Second | 4820del22/ins13 bp | Mutation at aa 1607 FKRDAHGQ into SGRRP |
The first AML cohort represents the initial series of 285 cases. The second cohort represents the independent series of 268 AMLs, which was interrogated using a gene expression prediction signature.
Nucleotide numbering according to Entrez nucleotide accession number NM_017617 (version NM_017617.2). The mutations in patients no. 2238, no. 6947, and no. 7053 are located in the NOTCH1 HD domain (exons 26 and 27). The mutation in patient no. 2686 is located in the NOTCH1 PEST domain (exon 34). Patient no. 3314 harbors in cis mutations both in the HD domain as well as the PEST domain. All mutations identified are heterozygous.