Fig. 1.

Analysis of myosin mutations in myosin heavy chains. a Graph showing the pattern of missense mutations that occur along the length of the β-cardiac myosin heavy chain amino acid sequence. Data shown includes mutations in this and an earlier study in 2014 with fewer mutations (Colegrave and Peckham 2014). The total numbers of mutations for each stretch of 50 amino acids (for subfragment-2 (S1) and subfragment-2 (S2)) and for 100 amino acid stretches (for light meromyosin (LMM)) are shown. Key functional regions of the motor are identified. LCD, light chain–binding domain. b Chart to indicate the main diseases resulting from mutations in β-cardiac myosin heavy chain (see also Supplementary Table 1). HCM, hypertrophic cardiomyopathy; DCM, dilated cardiomyopathy; CM, cardiomyopathy; SCD, sudden cardiac death; LVNC, left ventricular non-compaction. c Graph showing the pattern of missense mutations that occur along the length of the α-cardiac myosin heavy chain amino acid sequence, as in a. d Chart to indicate the main diseases resulting from mutations in α-cardiac myosin heavy chain (see also Supplementary Table 2). Abbreviations as in b. Additional abbreviations: SUD, sudden unexplained death; LVO, left ventricular obstruction. e Percentage of mutations in the three main regions of myosin, S1 (motor and lever), S2 and LMM for the 4 different myosin heavy chains