Table 1. Molecular Genetics of Hypertrophic Cardiomyopathy (HCM) in Descending Order of Frequency

% of FHCM Caused by Mutations in This GeneGene 1Protein Name 1OMIM 1
40%MYH7Myosin-7160760
192600
40%MYBPC3Myosin-binding protein C, cardiac type115197
600958
5%TNNT2Troponin T, cardiac muscle115195
191045
5%TNNI3Troponin I, cardiac muscle191044
613690
2%TPM1Tropomyosin alpha-1 chain115196
191010
UnknownMYL2Myosin regulatory light chain 2, ventricular/cardiac muscle isoform160781
608758
1%MYL3Myosin light chain 3160790
608751
UnknownACTC1Actin, alpha cardiac muscle 1102540
612098
UnknownCSRP3Cysteine and glycine-rich protein 3 600824
612124
UnknownACTN2Alpha-actinin-2102573
UnknownMYH6Myosin-6160710
613251
UnknownTCAPTelethonin604488
UnknownTNNC1Troponin C, slow skeletal and cardiac muscles191040
613243
UnknownPLNCardiac phospholamban172405
613874
UnknownMYOZ2Myozenin-2605602
613838
UnknownNEXNNexilin613121
613876

1. Data are compiled from the following standard references: gene symbol from HGNC; OMIM numbers from OMIM; protein name from UniProt.

From: Hypertrophic Cardiomyopathy Overview

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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