Table 1.
Performance of prediction tools for variants of unknown significance in RYR1 shown to lead to abnormal calcium release, or altered resting calcium concentrations in a recombinant system and in patient cells. A cut-off 15
| Sensitivity HEK293 cells or dyspedic myotubes (n=20) | Sensitivity Lymphoblastoid cell lines (n=11) | Sensitivity Muscle cells from patients (n=7) | |
|---|---|---|---|
| Polyphen-2 | 1 | 0.64 | 0.86 |
| Pmut | 1 | 0.64 | 0.86 |
| SIFT | 0.9 | 0.64 | 1 |
| MutPred | 0.95 | 0.73 | 0.86 |
| SNPs&GO | 0.95 | 1 | 1 |
| PANTHER | 0.95 | 0.55 | 0.71 |
| PhD-SNP | 0.95 | 0.82 | 1 |
| CADDA | 1 | 1 | 1 |