Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain

J Mol Cell Cardiol. 1999 Apr;31(4):745-50. doi: 10.1006/jmcc.1998.0911.


Mutations in the cardiac beta -myosin heavy chain gene (MYH7), and other genes encoding cardiac sarcomere proteins may cause familial hypertrophic cardiomyopathy (F-HCM), an autosomal dominant disease, characterized by myocardial hypertrophy. We analysed the MYH7 gene in three generations of a family with one borderline and four clinically verified cases of hypertrophic cardiomyopathy, and identified a mutation in exon 7 changing the 190 arginine residue into a threonine residue. The mutation is located in the ATP-binding region of the myosin head and alters the charge in the F-helix close to the phosphate-binding P-loop. The mutation may thus interfere with the coupling between ATP-hydrolysis and the transition into mechanical energy. In conclusion, the novel Arg190Thr mutation in exon 7 of the MYH7 gene is associated with the development of symptomatic myocardial hypertrophy in adults.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Adolescent
  • Adult
  • Arginine / chemistry
  • Base Sequence
  • Binding Sites / genetics
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / metabolism
  • Child
  • DNA Primers / genetics
  • Exons
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics*
  • Myosin Heavy Chains / metabolism
  • Pedigree
  • Phenotype


  • DNA Primers
  • Adenosine Triphosphate
  • Arginine
  • Myosin Heavy Chains