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

Anat Rec (Hoboken). 2014 Sep;297(9):1670-80. doi: 10.1002/ar.22973.


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.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Cardiac Myosins / chemistry
  • Cardiac Myosins / genetics*
  • Cardiac Myosins / metabolism
  • Genetic Predisposition to Disease
  • Heart Diseases / genetics*
  • Heart Diseases / metabolism
  • Humans
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation*
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics*
  • Myosin Heavy Chains / metabolism
  • Phenotype
  • Protein Conformation
  • Risk Factors
  • Structure-Activity Relationship


  • MYH7 protein, human
  • Cardiac Myosins
  • Myosin Heavy Chains