Table 1.
Predicted effect of TRPV3 mutations
| Mutation | Phenotype | Polyphen-2 | SIFT |
|---|---|---|---|
| G573A |
Olmsted (this study) |
0.775 (sensitivity: 0.85, specificity: 0.92) |
0.01 |
| G573C |
Olmsted [2] |
0.995 (sensitivity: 0.68, specificity: 0.97) |
0.00 |
| G573D |
Unknown |
0.924 (sensitivity: 0.81, specificity: 0.94) |
0.00 |
| G573E |
Unknown |
0.941 (sensitivity: 0.80, specificity: 0.94) |
0.00 |
| G573F |
Unknown |
0.996 (sensitivity: 0.55, specificity: 0.98) |
0.00 |
| G573 |
Native allele |
NA |
NA |
| G573H |
Unknown |
0.996 (sensitivity: 0.55, specificity: 0.98) |
0.00 |
| G573I |
Unknown |
0.992 (sensitivity: 0.70, specificity: 0.97) |
0.00 |
| G573K |
Unknown |
0.941 (sensitivity: 0.80, specificity: 0.94) |
0.00 |
| G573L |
Unknown |
0.970 (sensitivity: 0.77, specificity: 0.96) |
0.00 |
| G573M |
Unknown |
0.999 (sensitivity: 0.14, specificity: 0.99) |
0.00 |
| G573N |
Unknown |
0.941 (sensitivity: 0.80, specificity: 0.94) |
0.00 |
| G573P |
Unknown |
0.970 (sensitivity: 0.77, specificity: 0.96) |
0.00 |
| G573Q |
Unknown |
0.992 (sensitivity: 0.70, specificity: 0.97) |
0.00 |
| G573R |
Unknown |
0.960 (sensitivity: 0.78, specificity: 0.95) |
0.00 |
| G573S |
Olmsted [2,13] |
0.048 (sensitivity: 0.94, specificity: 0.83) |
0.05 |
| G573T |
Unknown |
0.941 (sensitivity: 0.80, specificity: 0.94) |
0.00 |
| G573V |
Unknown |
0.960 (sensitivity: 0.78, specificity: 0.95) |
0.00 |
| G573W |
Unknown |
0.999 (sensitivity: 0.14, specificity: 0.99) |
0.00 |
| G573Y |
Unknown |
0.996 (sensitivity: 0.55, specificity: 0.98) |
0.00 |
| W692G | Olmsted [2] | 0.999 (sensitivity: 0.14, specificity: 0.99) | 0.00 |