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