Table 3

 Relationship between phenotype severity scores and percentage of mutant allele active for mutations p.T158M and p.R168X

MutationScoring systemCases (n)Mean (SD)Minimum valueMaximum valuer*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.R168XPineda scale unadjusted2316.87 (3.29)10.9321.690.420.110.05
Pineda scale age adjusted0.080.15
p.R168XKerr profile unadjusted2322.65 (4.40)14.25300.490.160.02
Kerr profile age adjusted0.210.005
p.T158MPineda scale unadjusted2017.64 (4.78)9.68250.450.160.05
Pineda scale age adjusted0.170.04
p.T158MKerr profile unadjusted2024.90 (6.93)10330.350.170.13
Kerr profile age adjusted0.200.09
p.T158M and p.R168XPineda scale unadjusted4317.48 (4.17)9.68250.440.130.003
Pineda scale age adjusted0.120.005
p.T158M and p.R168XKerr profile unadjusted4323.70 (5.76)10330.440.170.003
Kerr profile age adjusted0.200.001