Supplementary Table 1.
Bioinformatics analysis of two novel pathogenic mutations
| Novel mutation | Bioinformatics analysis | Domain type | ||||
|---|---|---|---|---|---|---|
| PolyPhen-2* | MutationTaster† | I-mutant 2.0 (sign of DDG)‡ | ||||
| Prediction | Score | Prediction | Score | Prediction | ||
| p.I448V | Probably damaging | 0.999 | Disease causing | 0.999 | Decrease stability | Transmembrane |
| c.4712_4720delinsGGCCCACAG | – | – | Disease causing | 0.911 | – | AAA+ ATPase domain |
*PolyPhen-2 Prediction Score: Benign ≤0.5; probably damaging (>0.5); †I-Mutant 2.0 prediction: Sign of DDG: Decrease stability or increase stability; ‡MutationTaster prediction: Polymorphism or disease causing.