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Mutations in ZnT1 selected for functional validation, and their respective predicted structural properties, PolyPhen-2, Consurf, and literature comparisons
| Mutation | Topology | PolyPhen-2 score | Consurf score |
|---|---|---|---|
| D47G | TM helix II | 1 | 8 |
| G73D | Intracellular loop 1 | 1 | 9 |
| R76L | TM helix III | 0.997 | 9 |
| N127K | TM helix IV | 0.849 | 9 |
| R246C | TM helix V | 0.999 | 9 |
| V252G | TM helix V | 0.999 | 9 |
| S259L | Extracellular loop 3 | 0.998 | 9 |
| D317Y | Extracellular loop 3 | 1 | 9 |
