Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]

  • Regulation of the force of heart contraction
  • Regulation of heart rate
  • Skeletal muscle contraction
  • Muscle contraction
  • Striated muscle contraction

  • Myopathy, distal, 1
  • Scapuloperoneal myopathy, myh7-related
  • Cardiomyopathy, familial hypertrophic, 1
  • Myopathy, myosin storage, autosomal recessive
  • Myopathy, myosin storage, autosomal dominant

  • General Cardiomyopathy
  • Dilated Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • Non-compaction cardiomyopathy
  • Restrictive Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

MYH7 (myosin heavy chain 7) – BioGPS

Interacting Proteins for MYH7 Gene – String

Gene Location

Pathogenic Prevalence

% 0.153217568947906

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.102145045965271

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

T=0.000024(6/251440,GnomAD_exome)
T=0.000088(11/125568,TOPMED)
T=0.000033(4/121390,ExAC)
T=0.0002(1/5008,1000G)
T=0.0000(0/2188,ALFAProject)

T=0.000008(2/251480,GnomAD_exome)
T=0.000024(3/125568,TOPMED)
T=0.000016(2/121338,ExAC)
T=0.00001(1/78696,PAGE_STUDY)
T=0.00009(3/35240,ALFAProject)
T=0.00006(2/31362,GnomAD)
T=0.00008(1/13006,GO-ESP)

A=0.000028(7/251480,GnomAD_exome)
T=0.000008(1/125568,TOPMED)
A=0.000049(6/121402,ExAC)
A=0.0000(0/8584,ALFAProject)
T=0.0000(0/8584,dbGaPPopulationFrequencyProject)

High/Med VUS Variants

T=0.000060(15/251428,GnomAD_exome)
T=0.000390(49/125568,TOPMED)
T=0.000058(7/121402,ExAC)
T=0.00032(10/31382,GnomAD)
T=0.00017(3/17572,ALFAProject)
T=0.00046(6/13006,GO-ESP)
T=0.0003(1/3854,ALSPAC)
T=0.0000(0/3708,TWINSUK)

A=0.000016(4/251490,GnomAD_exome)
A=0.000008(1/125568,TOPMED)
A=0.000025(3/121406,ExAC)
A=0.0000(0/2188,ALFAProject)