Figure 2.
Analysis of disease-associated mutations with respect to interaction interfaces. (a) Odds ratios for the distribution of in-frame mutations in different locations on proteins in hSIN. **P < 10−20. P-values calculated using Z-tests for the log odds ratios. Error bars indicate ± SE. (b) Odds ratios for the distribution of truncating mutations in different locations on proteins in hSIN. (c) Odds ratios for the distribution of non-synonymous SNPs in different locations on proteins in hSIN. (d) Comparison of hSIN with mutations known to modify protein-protein interactions. (e) Illustration of MLH1 and PMS2 interaction interfaces. Colored stars indicate locations of experimentally tested in-frame mutations and SNPs. (f) Effects of in-frame mutations and SNPs on the MLH1-PMS2 interaction tested by Y2H. Flag tagged wild-type and mutant MLH1 were expressed in HEK293T cells, western blot analysis showed similar levels of MLH1 proteins. γ -tubulin was used as a loading control.