myosin binding protein C3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLeft Ventricular Noncompaction Cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCongenital myopathy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
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hypertrophic cardiomyopathy
hypertrophic cardiomyopathy 4
left ventricular noncompaction 10
cardiomyopathy
cardiomyopathy, dilated, 1MM
Rare familial disorder with hypertrophic cardiomyopathy
left ventricular noncompaction
familial isolated dilated cardiomyopathy
dilated cardiomyopathy
familial hypertrophic cardiomyopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Myosin-binding protein C, cardiac-type
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role
Curated MONDO disease pages that list MYBPC3 among their top associated genes.
MYBPC3 · Q14896
Mean pLDDT
78.8/ 100
Confident
1,274 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
