Table 4.
Enzyme activity and DGJ amenability classification of 18 novel GLA gene variants.
| Amino Acid | cDNA | In Vitro Enzyme Activity (%WT) in Mean ± SEM | Absolute Increase (%WT) | Fold over Baseline | Amenable According to Present Study | |
|---|---|---|---|---|---|---|
| Without DGJ | With DGJ | |||||
| p.L16R | c.47T > G | 0.0 | 0.0 | 0.0 | n/c | No |
| p.V22A | c.65T > C | 33.2 | 43.3 | 10.2 | 1.3 | Yes |
| p.D25V | c.74A > T | 110.0 | 128.0 | 18.0 | 1.2 | Yes |
| p.D165E | c.495T > G | 7.8 | 19.2 | 11.4 | 2.5 | Yes |
| p.F169L | c.505T > C | 47.7 | 76.8 | 29.1 | 1.6 | Yes |
| p.G171V | c.512G > T | 3.6 | 17.0 | 13.4 | 4.8 | Yes |
| p.G183C | c.547G > T | 0.0 | 9.7 | 9.7 | n/c | Yes |
| p.S188A | c.562T > G | 91.5 | 116.1 | 24.6 | 1.3 | Yes |
| p.R193S | c.579G > C | 48.7 | 62.5 | 13.8 | 1.3 | Yes |
| p.M208K | c.623T > A | 2.7 | 49.6 | 46.9 | 18.5 | Yes |
| p.M208I | c.624G > A | 45.6 | 62.5 | 16.9 | 1.4 | Yes |
| p.P214A | c.640C > G | 63.9 | 130.6 | 66.7 | 2.0 | Yes |
| p.Q221H | c.663G > C | 63.2 | 67.1 | 3.9 | 1.1 | No |
| p.Y222D | c.664T > G | 5.2 | 45.9 | 40.7 | 8.9 | Yes |
| p.F248S | c.743T > C | 108.2 | 90.4 | −17.9 | 0.8 | No |
| p.D255E | c.765T > A | 79.8 | 77.2 | −2.6 | 1.0 | No |
| p.V269L | c.805G > C | 2.8 | 48.8 | 46.0 | 17.6 | Yes |
| p.G271A | c.812G > C | 12.2 | 60.1 | 47.8 | 4.9 | Yes |
Green: Result complies with in-house amenability criterion. Red: Result does not comply with in-house amenability criterion.