Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations

Trends Cardiovasc Med. 2008 May;18(4):141-9. doi: 10.1016/j.tcm.2008.04.001.

Abstract

More than 200 mutations in the beta-myosin gene (MYH7) that cause clinically distinct cardiac and/or skeletal myopathies have been reported, but to date, no comprehensive statistical analysis of these mutations has been performed. As a part of this review, we developed a new interactive database and research tool called MyoMAPR (Myopathic Mutation Analysis Profiler and Repository). We report that the distribution of mutations along the beta-myosin gene is not homogeneous, and that myosin is a highly constrained molecule with an uncommon sensitivity to amino acid substitutions. Increasing knowledge of the characteristics of MH7 mutations may provide a valuable resource for scientists and clinicians studying diagnosis, risk stratification, and treatment of disease associated with these mutations.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Cardiac Myosins / chemistry
  • Cardiac Myosins / genetics*
  • Cardiomyopathies / genetics
  • Computational Biology*
  • DNA Mutational Analysis
  • Databases, Genetic
  • Genetic Predisposition to Disease
  • Genomics*
  • Humans
  • Muscular Diseases / genetics
  • Mutation*
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics*
  • Protein Conformation
  • Protein Structure, Tertiary

Substances

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