Figure 2. Representation of D389V Rare Variant in MYBPC3^Δ25bp Carriers.

A, Sequencing was used to identify rare protein-altering variation in 46 cardiomyopathy genes. An excess of unique singleton rare variants occurred in both MYBPC3^Δ25bp carriers (light bar) and noncarriers (dark bar). D389V (arrowhead) was the only variant present in more than 5 carriers and 0 noncarriers (NCs). B, The MYBPC3 gene and cMyBP-C protein structure with the positions of D389V (green asterisks) and MYBPC3^Δ25bp (red asterisk) indicated. Within the MYBPC3 gene, these 2 variants are separated by 12 kilobases (kb) (top). D389V falls in the C2 domain of cMyBP-C in a region implicated in binding myosin heavy chain (bottom).