Figure 3.
Analysis of pleiotropy and locus heterogeneity. (a) Fraction of mutation pairs on the same protein causing different diseases. **P < 10−20. P-values calculated using binomial tests. (b) Illustration of WASP and its interaction interfaces with CDC42 and VASP. Colored stars indicate locations of experimentally tested mutations. (c) Effects on the WASP-CDC42 interaction by mutations on different interaction interfaces tested by Y2H. Flag tagged wild-type and mutant WASP were expressed in HEK293T cells, western blot analysis showed similar levels of WASP proteins. γ -tubulin was used as a loading control. (d) Fraction of mutation pairs on two proteins causing the same disease.