Relationship between phenotype severity scores and percentage of mutant allele active for mutations p.T158M and p.R168X
| Mutation | Scoring system | Cases (n) | Mean (SD) | Minimum value | Maximum value | r | *Reg. coefft. | p Value |
|---|---|---|---|---|---|---|---|---|
| *Coefficient of the regression of severity score on percentage of mutant allele active—represents the increase in severity score for each percentage point increase. | ||||||||
| p.R168X | Pineda scale unadjusted | 23 | 16.87 (3.29) | 10.93 | 21.69 | 0.42 | 0.11 | 0.05 |
| Pineda scale age adjusted | 0.08 | 0.15 | ||||||
| p.R168X | Kerr profile unadjusted | 23 | 22.65 (4.40) | 14.25 | 30 | 0.49 | 0.16 | 0.02 |
| Kerr profile age adjusted | 0.21 | 0.005 | ||||||
| p.T158M | Pineda scale unadjusted | 20 | 17.64 (4.78) | 9.68 | 25 | 0.45 | 0.16 | 0.05 |
| Pineda scale age adjusted | 0.17 | 0.04 | ||||||
| p.T158M | Kerr profile unadjusted | 20 | 24.90 (6.93) | 10 | 33 | 0.35 | 0.17 | 0.13 |
| Kerr profile age adjusted | 0.20 | 0.09 | ||||||
| p.T158M and p.R168X | Pineda scale unadjusted | 43 | 17.48 (4.17) | 9.68 | 25 | 0.44 | 0.13 | 0.003 |
| Pineda scale age adjusted | 0.12 | 0.005 | ||||||
| p.T158M and p.R168X | Kerr profile unadjusted | 43 | 23.70 (5.76) | 10 | 33 | 0.44 | 0.17 | 0.003 |
| Kerr profile age adjusted | 0.20 | 0.001 | ||||||