Extended Data Fig. 1: Summary of LXRα mutant effects on receptor function.

A: Scatter plot demonstrating the relationship between transactivation capacity and co-expression activity for characterized mutations. Each dot is an individual variant, green variants are gain of function mutations, black are wild-type like, orange are loss of function without evidence of significant dominant negativity and red dots are dominant negative mutations. Grey dots are mutations which are intermediate and we not assigned to a class for the purpose of burden testing. The ‘N’ numbers represent the number of carriers in UK biobank. B: Schematic illustrating the effect of characterized LXR α mutants according to their position in the ligand binding domain of LXRα. Red, green and blue bars denote loss of function, gain of function and wild-type like mutations, respectively.