Fig. 4.

Variant distribution in Myosin-7. A. Most MYH7 variants associated with cardiomyopathy/skeletal myopathy (M-myo) were distributed in the first half part of Myosin-7. The number of unique variants in every 250 amino acids was shown on the top of each column. B. 13 of total 15 variants associated with scoliosis (M-sco) were located in the C-terminal region composed of last 435 amino acids. C. The ratio of the number of two types of variation (M-myo: M-sco) in each functional domain of Myosin-7 were shown on the top of the schematic. S-1 (subfragment 1), corresponding to head domain, is mainly responsible for ATP-hydrolysis and binding to actin. S-2 (subfragment 2) and LMM (light meromyosin) make up the filament-forming tail domain. Note: 897 of total 913 MYH7 variants were counted here, including 862 missense/nonsense mutation, 29 small deletions, and 4 small indels.