Fig. 2

Schematic structure of MYH6 and Myosin VI protein domains. a The MYH6 gene is located on chromosome 14q12 and composed of 39 exons. MYH6 codes a protein that comprised of 1928 amino acids. The myosin heavy chain-α (MHC- α) is a hexameric protein (shown by red arrows). The upper red arrow exhibits the position of the mutation, c.3835C > T found in this study. This mutation is located in exon 27 or tail domain region of myosin VI protein. b Myosin VI is composed of four various parts. The head domain (blue), Motor Head, binds to actin filaments and hydrolyze ATP; Dimerization is mediated by α-helical coiled-coil domain (Yellow); Tail domain plays a critical role in binding to target proteins. The identified mutation, R1279X, predicted influence on Myosin VI ability to bind a cargo, and it is responsible to emerge a wide phenotype range in these patients. c The amino acid sequence MYH6 (p.R1279) colored based on conservation scores by ConSurf database