Figure 1.

The distribution of MutationAssessor functional impact scores of nonsynonymous single nucleotide variants differs significantly in proteins belonging to different functional groups. (a) Candlestick representation of the distributions of MutationAssessor (MA) scores of germline single nucleotide variants (SNVs) in genes in all Gene Ontology Molecular Function (GOMF) categories, ordered from higher to lower mean. (b,c) Thirty least-tolerant and 30 most-tolerant GOMF groups of nsSNVs ordered by their mean MA scores. Groups in the lower end of the tolerance scale (less tolerant) correspond to essential GOMF categories, involved in signal transduction, transcription, and translation. On the other hand, the most tolerant molecular functions correspond mainly to metabolic-related activities.