Table 5 – Comparison of predictions with known experimentally characterised effect
Mutation | Known effect om amino acids transport | SIFT | PolyPhen-2 | Mutation Assessor | FATHMM | Condel | CADD |
|---|---|---|---|---|---|---|---|
b(0+)AT – G105R | reduced to 10% of WT | Damaging | Probably Damaging | Medium | Damaging | Damaging | Damaging |
b(0+)AT A182T | reduced to 60% of WT | Tolerated | Benign | Low | Damaging | Damaging | Damaging |
b(0+)AT R333W | reduced to 10% of WT | Damaging | Probably Damaging | High | Damaging | Damaging | Damaging |