Table 11 Comparative analysis of the SIFT predictions for the novel variants in GJB2 and GJB6 genes
Mutation | SIFT | PolyPhen-2 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
HumDiv | HumVar | |||||||||
Score | Median Sequence conservation | Sequences represented at position | Comment | Score | Sensitivity, Specificity | Comment | Score | Sensitivity, Specificity | Comment | |
p.E42D (GJB2) | 0.57 | 3.05 | 42 | Tolerated | 0.038 | 0.94, 0.82 | Benign | 0.052 | 0.93, 0.63 | Benign |
p.Q57R (GJB6) | 0.00 | 3.09 | 35 | Affect protein function | 1.000 | 0.00, 1.00 | Probably damaging | 1.000 | 0.00, 1.00 | Probably damaging |
p.E101Q (GJB6) | 0.48 | 3.10 | 29 | Tolerated | 0.183 | 0.92, 0.87 | Benign | 0.114 | 0.90, 0.69 | Benign |
p.R104H (GJB6) | 0.01 | 3.09 | 35 | Affect protein function | 0.990 | 0.41, 0.98 | Probably damaging | 0.749 | 0.77, 0.86 | Possibly damaging |