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). |