Table 1. List of potential pathogenic HNF1A missense mutations predicted by all in silico prediction tools.
| Mutation | PhD-SNP | Align GVGD | SNAP | PON-P2 | PolyPhen-2 | HANSA | SIFT | PANTHER | SNPs&GO | fathmm |
|---|---|---|---|---|---|---|---|---|---|---|
| N127Y | D | C65 | NN | P | PrD | D | D | D | D | -5.72 |
| R131Q | D | C65 | NN | P | PrD | D | D | D | D | -5.77 |
| R131W | D | C65 | NN | P | PrD | D | D | D | D | -5.91 |
| S142F | D | C65 | NN | P | PrD | D | D | D | D | -5.74 |
| R159W | D | C65 | NN | P | PrD | D | D | D | D | -5.91 |
| R200W | D | C65 | NN | P | PrD | D | D | D | D | -4.35 |
| R203C | D | C65 | NN | P | PrD | D | D | D | D | -5.53 |
| R263C | D | C65 | NN | P | PrD | D | D | D | D | -4.99 |
PhD-SNP, HANSA, SIFT, PANTHER & SNPs&Go: D-deleterious; Align GVGD: C-class; SNAP: NN-non-neutral; PolyPhen-2: PrD-probably damaging; PON-P2: P-pathogenic; fathmm scores below 0 are deleterious.