NPM1 mutation frequencies in 275 cases of de novo AML
NPM1 variant . | Nucleotide sequence* . | Protein sequence† . | No. of NPM1 mutants (%) . |
|---|---|---|---|
| WT | GATCTCTG GCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLWQWRKSL | NA |
| Mutant A | GATCTCTGTCTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCLAVEEVSLRK | 72 (26) |
| Mutant B | GATCTCTGCATGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCMAVEEVSLRK | 12 (4) |
| Mutant D | GATCTCTGCCTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCLAVEEVSLRK | 4 (1) |
| Mutant I‡ | GATCTCTGCAGAGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCRAVEEVSLRK | 1 (< 1) |
| Mutant J‡ | GATCTCTGCTTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCLAVEEVSLRK | 1 (< 1) |
| Mutant K‡ | GATCTCTGTATGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCMAVEEVSLRK | 1 (< 1) |
NPM1 variant . | Nucleotide sequence* . | Protein sequence† . | No. of NPM1 mutants (%) . |
|---|---|---|---|
| WT | GATCTCTG GCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLWQWRKSL | NA |
| Mutant A | GATCTCTGTCTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCLAVEEVSLRK | 72 (26) |
| Mutant B | GATCTCTGCATGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCMAVEEVSLRK | 12 (4) |
| Mutant D | GATCTCTGCCTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCLAVEEVSLRK | 4 (1) |
| Mutant I‡ | GATCTCTGCAGAGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCRAVEEVSLRK | 1 (< 1) |
| Mutant J‡ | GATCTCTGCTTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCLAVEEVSLRK | 1 (< 1) |
| Mutant K‡ | GATCTCTGTATGGCAGTGGAGGAAGTCTCTTTAAGAAAATAG | -DLCMAVEEVSLRK | 1 (< 1) |
Number of NPM1 mutants with undetermined variants, 4 (1%); total number of NPM1 mutants, 95 (35%).
Inserted nucleotides are underlined and italicized.
The C-terminal tryptophane residues (W) are underlined for wild-type (WT) NPM1.
NPM1 mutants I, J, and K are novel variants identified in addition to the 6 known NPM1 variants.13