Table 2 In silico predictions of functional effects for the three mutations identified in this study
Prediction program | CRYGD | GJA8 | GJA8 | |
|---|---|---|---|---|
c.70C > A | c.20T > C | c.293A > C | ||
p.Pro24Thr | p.Leu7Pro | p.His98Pro | ||
SIFT | Value (<0.05) | 0.10 | 0.00 | 0.00 |
Prediction | Tolerated | Not tolerated | Not tolerated | |
Polyphen-2 | Score | 0.084 | 0.991 | 1.000 |
Prediction | Benign | Probably damaging | Probably damaging | |
PMUT | NN output | 0.0936 | 0.8749 | 0.7822 |
Reliability | 8 | 7 | 5 | |
Prediction | Neutral | Pathological | Pathological | |
PANTHER | subPSEC (<-3) | -2.35974 | -4.3388 | -3.98807 |
Pdeleterious (>0.5) | 0.34519 | 0.79148 | 0.72871 | |
PON-P2 | Probability for pathogenicity | 0.479 | 0.947 | 0.444 |
Standard error | 0.332 | 0.050 | 0.090 | |
Prediction | Unknown | Pathogenic | Unknown | |
MutPred | Probability of deleterious mutation | 0.840 | 0.918 | 0.889 |
Molecular mechanisms disrupted | Loss of stability (p =0.0067) | |||
Gain of disorder (p =0.0099) | ||||