Table II.

Causal genes for HCM: genes coding for sarcomeric proteins.

Gene	Symbol	Locus	Frequency	Mutations
β-myosin heavy chain	MYH7	14q12	~35%	>70, predominantly missense mutations
Myosin binding protein-C	MYBPC3	11p11.2	~20%	>40, Predominantly splice junction and insertion/deletion mutations
Cardiac troponin T	TNNT2	1q32	~20%	> 15, Mostly missense
α-tropomyosin	TPM1	15q22.1	~5%	> 5 missense mutations
Cardiac troponin I	TNNI3	19p13.2	~5%	3 missense and 1 deletion mutations
Essential myosin light chain	MYL3	3p21.3	<5%	2 missense mutations
Regulatory myosin light chain	MYL2	12q23-24.3	<5%	7 missense and 1 truncation mutations
Cardiac α-actin	ACTC	15q11	<5%	2 missense mutations
Titin	TTN	2q24.1	<5%	1 missense mutation
α-myosin heavy chain	MYH6	14q1	Rare	1 missense and 1 rearrangement mutations
Cardiac troponin C	TNNC1	3p21.3-3p14.3	Rare	1 missense mutations in a patient with HCM