BIRC3 mutations in CLL
| Sample ID . | Nucleotide change‡ . | Amino acid change§ . | Predicted functional consequence . |
|---|---|---|---|
| 5977*† | c.1101_1132del32 | p.G367fs*6 | Truncated protein |
| 6550*† | c.1270G > T | p.E424* | Truncated protein |
| 6550*† | c.1183_1352del4894 | p.V395fs*78 | Truncated protein |
| 3878*† | c.1279_1280insA | p.I427fs*11 | Truncated protein |
| 5610*† | c.1638_1639insA | p.Q547fs*12 | Truncated protein |
| 5889*† | c.1663_1666delAGAA | p.R555fs*12 | Truncated protein |
| 12632* | c.4388delA | p.E553fs*22 | Truncated protein |
| 12534* | c.4441_4444delAGAA | p.E553fs*14 | Truncated protein |
| Sample ID . | Nucleotide change‡ . | Amino acid change§ . | Predicted functional consequence . |
|---|---|---|---|
| 5977*† | c.1101_1132del32 | p.G367fs*6 | Truncated protein |
| 6550*† | c.1270G > T | p.E424* | Truncated protein |
| 6550*† | c.1183_1352del4894 | p.V395fs*78 | Truncated protein |
| 3878*† | c.1279_1280insA | p.I427fs*11 | Truncated protein |
| 5610*† | c.1638_1639insA | p.Q547fs*12 | Truncated protein |
| 5889*† | c.1663_1666delAGAA | p.R555fs*12 | Truncated protein |
| 12632* | c.4388delA | p.E553fs*22 | Truncated protein |
| 12534* | c.4441_4444delAGAA | p.E553fs*14 | Truncated protein |
For these patients, paired normal DNA was available and confirmed the somatic origin of the mutation.
These patients were treated at diagnosis with fludarabine-based regimens to which they failed to respond; therefore, they are included both in the fludarabine-refractory CLL cohort and in the consecutive series of newly diagnosed CLL patients.
Numbering according to GenBank accession number NM_001165.3.
Numbering according to GenBank accession number NP_001156.1.