Table 2.
In Silico Deleteriousness Prediction of the Identified SLC16A2 Variants
| Proband | Variant | PROVEAN (12) | CADD (13) | PolyPhen2 (14) | SIFT (15) |
|---|---|---|---|---|---|
| P1, P2 | p.(Val566*) | Deleterious (−44.7) | NA | NA | NA |
| P3 | p.(Leu602HisfsTer680) | Deleterious (−16.3) | NA | NA | NA |
| P4, P5 | p.(Pro609GlnfsTer676) | Deleterious (−9.0) | NA | NA | NA |
| P6 | p.(His575Arg) | Deleterious (−3.4) | Possibly deleterious (21.9) | Benign (0.04) | Tolerated (0.33) |
| P7 | p.(Asn599Ser) | Neutral (−1.8) | Possibly deleterious (23.5) | Possibly deleterious (0.21) | Tolerated (0.12) |
In silico prediction tools were used according to their online instructions. The following cutoffs were recommended. PROVEAN scores < -2.5 are considered deleterious. CADD scores >15 are generally regarded as possibly deleterious. PolyPhen-2 scores between 0.85–1.0 are considered deleterious, whereas scores between 0.15–0.85 are considered possibly deleterious. A SIFT score between 0.0–0.05 is considered deleterious, whereas scores between 0.05–1.0 are considered benign.