Structural implications of β-cardiac myosin heavy chain mutations in human disease

Abstract

Over 500 disease-causing point mutations have been found in the human β-cardiac myosin heavy chain, many quite recently with modern sequencing techniques. This review shows that clusters of these mutations occur at critical points in the sequence and investigates whether the many studies on these mutants reveal information about the function of this protein.

Keywords: cardiac disease; point mutation; skeletal muscle disease; β-cardiac myosin.