Table 5 In silico mutation predictions
Mutation | PolyPhen-2 | SIFT | Mutation taster |
|---|---|---|---|
p.(Leu107CfsX5) | NA | NA | Disease-causing |
p.(Thr375Ala) | PrD (0.997) | Damaging (0.010) | Disease-causing |
p.(Leu846Pro) | PrD (0.995) | Damaging (0.001) | Disease-causing |
p.(Arg1173Gly) | PrD (0.999) | Damaging (0.007) | Disease-causing |
p.(Arg1274Trp) | PrD (0.986) | Damaging (0.004) | Disease-causing |
p.(Thr204Thr) | NA | Tolerated (0.703) | Disease-causing |
c.(1947 + 10G > A) | NA | NA | Polymorphism |