Table 1.
NQO1 mutations experimentally characterized in this work.
| Trivial Name | Amino Acid Change | Nucleotide Change | COSMIC | gnomAD V.2.1.1 | ΔΔG (kcal·mol−1) 1 | ||
|---|---|---|---|---|---|---|---|
| All Samples (AS) | Non-Cancer (NC) | Ratio (AS:NC) | |||||
| G3S | p.G3S | c.7G > A | - | 1.2 × 10−5 | 1.3 × 10−5 | 0.9 | −1.5 ± 1.0 |
| G3D | p.G3D | c.8G > A | + | - | - | - | −1.4 ± 0.9 |
| L7P | p.L7P | c.20T > C | + | - | - | - | −4.3 ± 1.2 |
| L7R | p.L7R | c.20T > G | - | 7.8 × 10−5 | 7.5 × 10−5 | 1.0 | −2.1 ± 0.8 |
| V9I | p.V9I | c.25G > A | - | 3.9 × 10−5 | 4.1 × 10−5 | 0.9 | −0.4 ± 0.6 |
| T16M | p.T16M | c.47C > T | - | 2.8 × 10−5 | 2.6 × 10−5 | 1.1 | −0.1 ± 0.2 |
| Y20N | p.Y20N | c.58T > A | - | 2.1 × 10−5 | 1.9 × 10−5 | 1.1 | −1.1 ± 0.6 |
| A29T | p.A29T | c.85G > A | + | - | - | - | −1.3 ± 1.3 |
1 ΔΔG is the average ±s.d. from the stability effects provided by Site Directed Mutator (SDM), PopMuSiC, DynaMut, MAESTRO and CUPSAT (see Supplementary Materials Table S1).