Mutation data of the MYL2 gene in hypertrophic cardiomyopathy

*Mutation type^1**	Mutation position	Length of affected nucleotides	Nucleotide sequence after mutation	Mutation name	Case #	Consequence	Disease	Symptom	*Hereditary pattern^2**	Reference
M	37	1	A	A13T	1	GCC-ACC at ntd 37 -> Ala-Thr at codon 13	hypertrophic cardiomyopathy	increased left ventricular mass	AD	Poetter, K., et al. Nature Genet. 13, 63 (1996).
M	64	1	A	E22K	2	GAA-AAA at ntd 64 -> Glu-Lys at codon 22	hypertrophic cardiomyopathy	increased left ventricular mass	AD	Poetter, K., et al. Nature Genet. 13, 63 (1996).
M	218	1	G	P73R	1	CCG-CGG at ntd 218 -> Pro-Arg at codon 73	hypertrophic cardiomyopathy	increased left ventricular mass	AD	Poetter, K., et al. Nature Genet. 13, 63 (1996).
M	170	1	A	R57Q	2	CGC-CAC at ntd 170 -> Arg-Gln at codon 57	familial hypertrophic cardiomyopathy	increased left ventricular mass	AD	Flavigny, J., et al. J. Mol. Med. 76, 208 (1998).
M	52	1	C	F18L	1	TTC-CTC at ntd 52 -> Phe-Leu at codon 18	familial hypertrophic cardiomyopathy	increased left ventricular mass	AD	Flavigny, J., et al. J. Mol. Med. 76, 208 (1998).

*1 Abbreviations are as follows: M, Missense.
*2 Abbreviations are as follows: AD, Autosomal Dominant.

Last updated 27 March 1999