Table 1.
Key features of functionally characterized missense alleles
| Functional class | Expression construct | Conserved motif | Clone growth | Protein half-life [95% CI] | CONDEL | ||
|---|---|---|---|---|---|---|---|
| Puro only | MMC 15 | ng/mL 30 | |||||
| Wildtype | Wildtype | +++ | ++ | ++ | 5.7 [3.9, 8.5] | NA | |
| S407G | +++ | ++ | ++ | 8.2 [4.2, 10.8] | Damaging | ||
| H587L | +++ | ++ | ++ | 4.0 [3.0, 6.3] | Neutral | ||
| Q740H | +++ | ++ | ++ | 8.1 [5.5, 11.2] | Damaging | ||
| A745T | +++ | ++ | ++ | 4.9 [3.2, 6.11] | Damaging | ||
| L844I | +++ | ++ | ++ | ND | Neutral | ||
|
| |||||||
| Hypomorph | P47Aa | H-I | +++ | ++ | + | 2.9 [2.3, 4.0] | Damaging |
| E511G | +++ | ++ | + | 4.4 [3.5, 6.0] | Damaging | ||
| E636K | +++ | + | -- | 3.4 [2.6, 4.6] | Damaging | ||
| I691L | H-IV | +++ | ++ | + | 2.7 [2.0, 4.1] | Damaging | |
| G649S | +++ | ++ | + | 3.6 [2.3, 4.8] | Damaging | ||
| I782V | +++ | ++ | + | ND | Neutral | ||
| D791V | +++ | + | -- | 3.0 [2.3, 4.2] | Damaging | ||
| K797R | +++ | + | -- | 2.5 [1.7, 3.7] | Damaging | ||
| Y822H | H-VI | +++ | ++ | + | 3.8 [3.3, 4.5] | Damaging | |
|
| |||||||
| Null | A349Pa | Fe-S | +++ | -- | -- | 5.6 [3.8, 8.6] | Damaging |
| V676E | +++ | -- | -- | 2.6 [2.1, 3.3] | Damaging | ||
| G690E | H-IV | +++ | -- | -- | 2.3 [1.5, 3.3] | Damaging | |
| R777C | +++ | -- | -- | 2.2 [1.5, 3.7] | Damaging | ||
| C832Y | H-VI | +++ | -- | -- | 2.9 [2.3, 3.9] | Damaging | |
| R865W | +++ | -- | -- | 1.8 [1.4, 2.4] | Damaging | ||
| EV | +++ | -- | -- | NA | NA | ||
ND – not determined; NA – not applicable
a
previously characterized as deleterious missense variant