Fig. 3
Distribution of variants detected within CCs according to the Variation Viewer data. The average count of variants are represented according to their clinical significances (a), types (b), molecular consequences (c) and minor allele frequencies (ExAC-MAF) (d) for negative charge clusters (NCC, red) and positive charge clusters (PCC, blue). The classification of variants was provided by Variation Viewer (Details in Materials and Methods section). The plot shows that PCCs are richer in pathogenic and probably pathogenic variants than NCCs (p = 2.65 × 10−7), which are richer in benign and likely benign variants (p = 0.0432). Moreover, the majority of variants are single nucleotide variants (SNV, 80%), missense (p = 2.2 × 10−16) and rare (MAF < 0.005; p = 5 × 10−5)