Table 1.
SLC6A1 variants and frequency of the main clinical features in each family.
| Family | Variant NM_003042.4/N P_003033.3 | CADD score | Classification (III–V) | SIFT (Score) | PolyPhen (Score) | Mutation Taster | Epilepsy | Intellectual disability | Psychiatric symptoms | Learning disabilities | Neurological signs |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A | c.283G>T; p.(V95F) | 24.4 | IV (PS4, PM2, PP1, PP3) | Deleterious (0) | Possible damaging (0.649) | Benign | 2/7 | 1/7 | 2/7 | 3/7 | 1/7 |
| B | c.286C>G; p.(P96A) | 24.8 | III (PM2, PP3) | Deleterious (0) | Possible damaging | Deleterious | 1/2 | 1/2 | 1/2 | 1/2 | 1/2 |
| C | c.340G > A; p.(G114R) | 27.9 | III (PM2, PP3) | Deleterious (0.03) | Probably damaging | Deleterious | 2/2 | 2/2 | 2/2 | 0/2 | 2/2 |
| D | c.695G>T; p.(G232V) | 28.6 | IV (PS4, PM2, PP1, PP3) | Deleterious (0) | Probably damaging (1) | Deleterious | 2/3 | 2/3 | 0/3 | 1/3 | 1/3 |
| E | c.801delC; p.(G297R) | - | V (PVS1, PM2, PP3) | NA | NA | - | 1/3 | 1/3 | 1/3 | 1/3 | 1/3 |
| F | c.889G>A; p.(G297R) | 25.5 | IV (PS4, PM2, PP1, PP3) | Deleterious (0.02) | Benign (0.373) | Deleterious | 1/3 | 2/3 | 1/3 | 0/3 | 2/3 |
| G | c.1024G>A; p.(V342M) | 28.5 | IV (PS4, PM2, PP1, PP3) | Deleterious (0) | Probably damaging (0.967) | Deleterious | 3/3 | 2/3 | 2/3 | 1/3 | 2/3 |
| H | c.1070C>T; p.(A357V) | 31 | IV (PS4, PM2, PP1, PP3) | Deleterious (0.02) | Probably damaging (0.91) | Deleterious | 2/2 | 1/2 | 2/2 | 1/2 | 1/2 |
| I | c.1084G>A, p.(G362R) | 24.9 | V (PS4, PM1, PM2, PP1, PP3) | Deleterious (0) | Possible damaging (0.864) | Deleterious | 3/4 | 1/4 | 0/4 | 2/4 | 0/4 |
| J | c.1084G>A, p.(G362R) | 24.7 | V (PS4, PM1, PM2, PP1, PP3) | Deleterious (0) | Possible damaging (0.864) | Deleterious | 3/4 | 3/4 | 4/4 | 0/4 | 3/4 |
| K | c.1328G>A; p.(G443D) | 27.1 | IV (PS4, PM2, PP3) | Deleterious (0) | Probably damaging (1) | Deleterious | 0/2 | 2/2 | 2/2 | 0/2 | 0/2 |
| L | c.1702C>T; p.(Q568*) | 41 | V (PVS1, PS4, PM2) | - | - | - | 0/2 | 2/2 | 2/2 | 0/2 | 0/2 |
| M | c.1702C>T; p.(Q568*) | 41 | V (PVS1, PS4, PM2) | - | - | - | 0/2 | 1/2 | 1/2 | 1/2 | 1/2 |