From: Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients
Tool/database | C1076A (S359Y) Ser359Tyr TCC → TAC | C1207T (P403S) Pro403Ser CCT → TCT | G398A (R133H) Arg133His CGC → CAC | A362C (D121A) Asp121Ala GAT → GCT |
---|---|---|---|---|
MutationTaster2 (score)a | Disease causing (155) | Disease causing (74) | Disease causing (29) | Disease causing (126) |
PROVEANb | Neutral (−1.189) | Neutral (−0.315) | Deleterious (−4.996) | Deleterious (−7.838) |
PolyPhen2 (score)c | Benign (0.085) Sensitivity: 0.93 Specificity: 0.85 | Benign (0.141) Sensitivity: 0.92 Specificity: 0.86 | Probably damaging (1.000) Sensitivity: 0.00 Specificity: 1.00 | Probably damaging (1.000) Sensitivity: 0.00 Specificity: 1.00 |
AGVGDd | Class C65 | Class C65 | Class C25 | Class C65 |
SNPs&GO (reliability index)e | Neutral (8) | Neutral (9) | Disease-related (6) | Disease-related (5) |
MutPred2 software (probability)f | Non-deleterious (0.197) | Non-deleterious (0.106) | Deleterious (0.721). | Deleterious (0.860) |
Blosum62g | −2 | −1 | 0 | −2 |
ESEfinder 2.0h | Insignificant | Insignificant | Insignificant | Insignificant |