TABLE 3.
Glut1 pathogenic mutants, resulting in DS-GLUT1 phenotype in humans
| Mutation | Nucleotides | Location | Reference |
|---|---|---|---|
| S66F | TCC→TTC | Helix 2 | Klepper et al. (1999) |
| G91D | GGC→GAC | Loop 2–3 | Klepper et al. (2001) |
| R126H | CGC→CAC | Helix 4 | Brockmann et al. (2001) |
| R126L | CGC→CTC | Helix 4 | Wang et al. (2000) |
| R126C | CGC→CGT | Helix 4 | Pascual et al. (2002) |
| E146K | GAA→AAA | Helix 4 | Wang et al. (2000) |
| E247D | GAA→CAA | Loop 6–7 | Pascual et al. (2002) |
| K256V | AAG→GTG | Loop 6–7 | Pascual et al. (2002) |
| T310I | ACC→ATC | Helix 8 | Klepper et al. (1999) |
| R333W | CGG→TGG | Loop 8–9 | Wang et al. (2000) |