Supplementary Fig. S5.

2D Kernel density plots for the 42 VUS (C176W, C229R, C229Y, D148A, D148Y, D281E, G154D, G154S, G187D, G226V, G279R, G293R, G293W, G302E, H115R, H233R, H296Y, I254V, I255N, K291N, K292R, L252P, L264P, M133I, N310D, N310K, P278R, Q192R, R181S, R249S, S127T, S215R, S260Y, S303G, S303N, T170M, T170R, V143L, V218G, V272M). The red to blue colors in the scale represent the degree of intensity from high to low. Each Ramachandran density plot provides visualization for the presence of structural deviations, the actual calculations were based on combined basic data from the variants of benign, likely benign, pathogenic, likely pathogenic and wild type. See detailed description in Materials and Methods.