Figure 3.

Distribution of MYBPC3 pathogenic variants, variants of unknown significance, and common Genome Aggregation Database (gnomAD) variants relative to MyBP-C (myosin binding protein C) protein domains. Truncating MYBPC3 pathogenic variants are dispersed homogeneously throughout the gene, while nontruncating pathogenic variants exhibit clustering in the C3, C6, and C10 domains (18 of 22, 82%). Nontruncating variants of unknown significance are dispersed throughout the gene, as are gnomAD common variants (ie, allele frequency >4×10⁻⁵).