MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

  • Heart morphogenesis
  • Regulation of striated muscle contraction
  • Cell adhesion
  • Muscle filament sliding
  • Positive regulation of ATPase activity
  • Cardiomyopathy, familial hypertrophic, 4
  • Left ventricular noncompaction 10
  • Hypertrophic cardiomyopathy
  • Left ventricular noncompaction
  • Cardiac conduction defect
  • General Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • Non-compaction Cardiomyopathy
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

Emw. Structure of the MYBPC3 protein. Based on PyMOL rendering of PDB 1gxe.

Gene Location

Pathogenic Prevalence

% 0.153217568947906

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

HM-VUS Prevalence

% 0.153217568947906

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

Pathogenic Variants

delC=0.000011(2/186304,GnomAD_exome)
delC=0.000008(1/125568,TOPMED)
delC=0.0000(0/2188,ALFAProject)

T=0.000056(7/125568,TOPMED)
T=0.00004(3/78684,PAGE_STUDY)
G=0.00006(2/31376,GnomAD)
T=0.00018(2/11358,ALFAProject)
G=0.0002(1/5008,1000G)

T=0.000065(11/169270,GnomAD_exome)
T=0.000104(13/125568,TOPMED)
T=0.00006(2/31398,GnomAD)
T=0.00004(1/23806,ExAC)
T=0.00009(1/11176,ALFAProject)

High/Med VUS Variants

T=0.000138(34/246694,GnomAD_exome)
T=0.000183(23/125568,TOPMED)
T=0.000162(18/110970,ExAC)
T=0.00031(29/94986,ALFAProject)
T=0.00024(19/78698,PAGE_STUDY)
T=0.00022(7/31402,GnomAD)
T=0.00039(5/12762,GO-ESP)
T=0.0002(1/5008,1000G)
T=0.005(1/216,Qatari)

T=0.000271(34/125568,TOPMED)
T=0.00045(43/94804,ALFAProject)
T=0.00022(17/78696,PAGE_STUDY)
T=0.00022(7/31388,GnomAD)
T=0.00039(5/12816,GO-ESP)
T=0.0002(1/5008,1000G)
T=0.0008(3/3854,ALSPAC)
T=0.0005(2/3708,TWINSUK)
G=0.0003(1/2922,KOREAN)
T=0.003(3/998,GoNL)
T=0.002(1/534,MGP)

G=0.000589(74/125568,TOPMED)
G=0.000301(36/119710,ExAC)
G=0.00048(15/31338,GnomAD)
G=0.00082(10/12252,GO-ESP)
G=0.0002(1/5008,1000G)
G=0.0007(3/4480,Estonian)
G=0.0008(3/3854,ALSPAC)
G=0.0003(1/3708,TWINSUK)
G=0.0018(4/2188,ALFAProject)