Fig. 4: Stabilising mutations may be important for disease in gain-of-function and particular functional class LOF contexts. | Nature Communications

Fig. 4: Stabilising mutations may be important for disease in gain-of-function and particular functional class LOF contexts.

From: Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

Fig. 4

a ΔΔG distributions (not absolute values) for pathogenic mutations, associated with different molecular mechanisms. Violin middle line shows median, red dot represents the mean. Pairwise group comparisons are significant (p < 3.29 × 10−4, two-sided Holm-corrected Dunn’s test) unless specified (n.s., p = 0.107). b Fraction of pathogenic mutations associated with different molecular mechanisms with negative (stabilising) ΔΔG values. Error bars denote 95% confidence intervals. c Fisher log odds enrichments of stabilising mutations within each class from among all disease mutations. Error bars represent 95% confidence intervals. d Destabilising and stabilising variant prevalence differences in HI genes associated with particular functional classes. Sample sizes denote variant number, found in a gene associated with the particular function. Chi-square test p-value and effect size are shown. Source data are provided as a Source Data file.

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