Table 3.
In silico predictions for the pathogenicity of missense variants in our patients’ cohort
| Variant | I-Mutant-2 | Mupro | I-Stable | ConSurf | SIFT | Polyphen2 | Reference |
|---|---|---|---|---|---|---|---|
| p.Met191Arg | D | D | D | 9 | NT | PD | This study |
| p.Arg161Trp | D | D | D | 5 | NT | PD | |
| p.Gly107Val | D | D | D | 9 | NT | PD | |
| p.Arg161Gln | D | D | D | 5 | NT | PD | (Busquets et al. 2000) |
| p.Ala433Val | D | D | D | 8 | T | PD | |
| p.Trp50Arg | D | D | D | 5 | NT | PD | (Mosaeilhy et al. 2017) |
| p.Pro53Gln | D | D | D | 5 | NT | PD | |
| p.Glu64Asp | D | D | D | 9 | T | PD | |
| p.Ser119Leu | I | I | I | 9 | NT | PD | |
| p.Arg128Gln | D | D | D | 9 | T | PD | |
| p.Ser139Leu | I | I | I | 9 | T | PD | |
| p.Arg257Gln | I | D | D | 9 | NT | PD | |
| p.Arg402Trp | D | D | D | 9 | NT | PD | |
| p.Ile428Met | D | D | D | 8 | NT | PD |