Diapositive 1

1
Table e-1. In silico predictive scores for the
TRPV4 mutations Arg186Gln, Arg 232Ser, and
Arg232Cys.
Bioinformatic tool Mutation SIFT Mutation Taster PolyPhen-2 PolyPhen-2
p.Arg186Gln Deleterious (score  0.00) Disease causing (p-value 0.992) Probably damaging (score  0.976) Sensitivity 0.76 Specificity 0.96
p.Arg232Ser Tolerated (score 0.14) Disease causing (p-value 1.0) Probably damaging (score 0.963) Sensitivity 0.78 Specificity 0.95
p.Arg232Cys Deleterious (score 0.02) Disease causing (p-value 1.0) Probably damaging (score  1.000) Sensitivity 0.00 Specificity 1.00