B-ALL–related NBN variant classification
| Variant . | Position . | Protein stability∗ . | MMC sensitivity† . | Final classification . |
|---|---|---|---|---|
| L4P | 4 | Complete loss | High | Nonfunctional |
| S40L | 40 | Complete loss | High | Nonfunctional |
| S706X | 706 | Complete loss | High | Nonfunctional |
| I228R | 228 | Complete loss | High | Nonfunctional |
| A313V | 313 | Complete loss | High | Nonfunctional |
| K219fs | 219 | Complete loss | High | Nonfunctional |
| L281X | 281 | Complete loss | High | Nonfunctional |
| F222L | 222 | Partial loss | Moderate | Partially functional |
| M152I | 152 | Partial loss | WT-like | Partially functional |
| S93L | 93 | Partial loss | Moderate | Partially functional |
| K156N | 156 | Partial loss | Moderate | Partially functional |
| E179K | 179 | Partial loss | WT-like | Partially functional |
| V184A | 184 | Partial loss | WT-like | Partially functional |
| Q39K | 39 | WT-like | Moderate | Partially functional |
| F263S | 263 | Mild loss | WT-like | Functional |
| E217Q | 217 | Mild loss | WT-like | Functional |
| A241T | 241 | Mild loss | WT-like | Functional |
| L18I | 18 | Mild loss | WT-like | Functional |
| P495L | 495 | WT-like | WT-like | Functional |
| E552Q | 552 | WT-like | WT-like | Functional |
| G274R | 274 | WT-like | WT-like | Functional |
| Q448L | 448 | WT-like | WT-like | Functional |
| D469Y | 469 | WT-like | WT-like | Functional |
| E564K | 564 | WT-like | WT-like | Functional |
| V556E | 556 | WT-like | WT-like | Functional |
| Variant . | Position . | Protein stability∗ . | MMC sensitivity† . | Final classification . |
|---|---|---|---|---|
| L4P | 4 | Complete loss | High | Nonfunctional |
| S40L | 40 | Complete loss | High | Nonfunctional |
| S706X | 706 | Complete loss | High | Nonfunctional |
| I228R | 228 | Complete loss | High | Nonfunctional |
| A313V | 313 | Complete loss | High | Nonfunctional |
| K219fs | 219 | Complete loss | High | Nonfunctional |
| L281X | 281 | Complete loss | High | Nonfunctional |
| F222L | 222 | Partial loss | Moderate | Partially functional |
| M152I | 152 | Partial loss | WT-like | Partially functional |
| S93L | 93 | Partial loss | Moderate | Partially functional |
| K156N | 156 | Partial loss | Moderate | Partially functional |
| E179K | 179 | Partial loss | WT-like | Partially functional |
| V184A | 184 | Partial loss | WT-like | Partially functional |
| Q39K | 39 | WT-like | Moderate | Partially functional |
| F263S | 263 | Mild loss | WT-like | Functional |
| E217Q | 217 | Mild loss | WT-like | Functional |
| A241T | 241 | Mild loss | WT-like | Functional |
| L18I | 18 | Mild loss | WT-like | Functional |
| P495L | 495 | WT-like | WT-like | Functional |
| E552Q | 552 | WT-like | WT-like | Functional |
| G274R | 274 | WT-like | WT-like | Functional |
| Q448L | 448 | WT-like | WT-like | Functional |
| D469Y | 469 | WT-like | WT-like | Functional |
| E564K | 564 | WT-like | WT-like | Functional |
| V556E | 556 | WT-like | WT-like | Functional |
Variant protein stability compared with WT NBN stability: complete loss ≥90% reduction, partial loss 50% to 90% reduction, mild loss 20% to 50% reduction, WT-like <20% reduction.
MMC sensitivity quantified as fold change in variant frequency pre- and post-MMC treatment: high <0.75, moderate 0.75 to 1, WT-like >1.