Distribution of functional sites from UniProtKB/Swiss-Prot that affected by nsSNVs. A) Distribution of loss of functional sites caused by nsSNVs from cases. B) Distribution of loss of functional sites caused by nsSNVs from controls. C) Heatmap representation of the overlap of nsSNVs in cases and control (nsSNVs found in both cases and controls are marked green and marked red if they are unique to case or control. All protein accessions and corresponding position were given a numerical ID (Additional file 1: Table S1) to facilitate visualization of the vertical axis in the heatmap.