Fig. 2: Autosomal dominant mutations are milder than autosomal recessive mutations. | Nature Communications

Fig. 2: Autosomal dominant mutations are milder than autosomal recessive mutations.

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

Fig. 2

a Comparison of predicted | ΔΔG | values for gnomAD variants and pathogenic ClinVar mutations from autosomal dominant (AD) and autosomal recessive (AR) genes. Boxes denote data within 25th and 75th percentiles, and contain median (middle line) and mean (red dot) value notations. Whiskers extend from the box to furthest values within 1.5x the inter-quartile range. All pairwise comparisons between groups are significant (p < 6.4 × 10−72, two-sided Holm-corrected Dunn’s test). b Proportions of gnomAD, AD and AR mutations occurring in protein interiors, surfaces and interfaces. All pairwise comparisons are significant (Chi-square test). c AUC values calculated from ROC curves for discriminating between pathogenic ClinVar mutations from AD or AR genes, and putatively benign gnomAD variants. ‘AR, All’ considers all gnomAD variants from the AR genes, while ‘AR, Hom’ only includes those variants that have been observed in a homozygous state in gnomAD at least once. Error bars denote 95% confidence intervals. Source data are provided as a Source Data file.

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