Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]

  • In utero embryonic development
  • Regulation of the force of heart contraction
  • Regulation of heart rate
  • Protein dephosphorylation
  • Muscle contraction

  • Atrial septal defect 3
  • Cardiomyopathy, dilated, 1ee
  • Sick sinus syndrome 3
  • Cardiomyopathy, familial hypertrophic, 14
  • Heart disease

  • General Cardiomyopathy
  • Dilated Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • General Arrhythmia
  • Familial Atrial Fibrillation
  • Structural Heart Disease

Based on Ayass Bioscience, LLC Data Analysis

MYH6 (myosin heavy chain 6) – BioGPS

Interacting Proteins for MYH6 Gene – String

Emw. Structure of the MYH6 protein. Based on PyMOL rendering of PDB 2fxm.

Gene Location

HM-VUS Prevalence

% 0.306435137895812

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

High/Med VUS Variants

T=0.000414(52/125568,TOPMED)
T=0.00049(43/88574,ALFAProject)
T=0.00022(7/31382,GnomAD)
T=0.00062(8/13006,GO-ESP)
T=0.0006(3/5008,1000G)
T=0.0005(2/3854,ALSPAC)
T=0.0011(4/3708,TWINSUK)
T=0.001(1/998,GoNL)

A=0.001067(134/125568,TOPMED)
A=0.000980(119/121412,ExAC)
A=0.00074(70/94870,ALFAProject)
A=0.00107(84/78690,PAGE_STUDY)
A=0.00127(40/31396,GnomAD)
A=0.00092(12/13006,GO-ESP)
A=0.0006(3/5008,1000G)
A=0.0031(14/4480,Estonian)
A=0.0021(8/3854,ALSPAC)
A=0.0013(5/3708,TWINSUK)
A=0.002(2/998,GoNL)
A=0.006(3/534,MGP)