Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary pattern |
Ethnic origin |
Reference |
M |
434 |
1 |
A |
R145Q |
1 |
CGG-CAG at ntd 434 -> Arg-Gln at codon 145 |
hypertropic cardiomyopathy (ventricular hypertrophy) |
Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays |
AD*2 |
Japanese |
Kimura (1997) Nat Genet 16, 379 |
M |
433 |
1 |
G |
R145G |
1 |
CGG-GGG at ntd 433 -> Arg-Gly at codon 145 |
hypertropic cardiomyopathy (ventricular hypertrophy) |
Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays |
AD |
korean |
Kimura (1997) Nat Genet 16, 379 |
M |
484 |
1 |
T |
R162W |
1 |
CGG-TGG at ntd 484 -> Arg-Trp at codon 162 |
apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex) |
Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays |
AD |
Japanese |
Kimura (1997) Nat Genet 16, 379 |
M |
607 |
1 |
A |
G203S |
1 |
GGC-AGC at ntd 607 -> Gly-Ser at codon 203 |
apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex), WPW syndrome |
Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays |
AD |
Japanese |
Kimura (1997) Nat Genet 16, 379 |
M |
616 |
1 |
C |
K206Q |
1 |
AAA-CAA at ntd 616 -> Lys-Gln at codon 206 |
hypertropic cardiomyopathy (ventricular hypertrophy) |
Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays |
AD |
Japanese |
Kimura (1997) Nat Genet 16, 379 |
D |
547 |
3 |
|
547delAAG |
1 |
3-bps del AAG at ntd 547 |
apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex), hypertropic cardiomyopathy (ventricular hypertrophy) |
Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays |
AD |
Japanese |
Kimura (1997) Nat Genet 16, 379 |
P |
25-8 |
1 |
A |
25-8T/A |
|
polymorphism at ntd 25-8 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
48 |
1 |
G |
48A/G |
|
polymorphism at ntd 48 (P/P48) |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
108+21 |
1 |
A |
108+21G/A |
|
polymorphism at ntd 108+21 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
109-37 |
1 |
T |
109-37C/T |
|
polymorphism at ntd 109-37 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
109-17 |
1 |
A |
109-17C/A |
|
polymorphism at ntd 109-17 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
150+24 |
1 |
G |
150+24A/G |
|
polymorphism at ntd 150+24 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
174 |
1 |
T |
174G/T |
1 |
polymorphism at ntd 174 (K/N58) |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
220 |
1 |
A |
220C/A |
1 |
polymorphism at ntd 220 (R/S74) |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
235 |
1 |
T |
235C/T |
5 |
polymorphism at ntd 235 (R/C79) |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
282+17 |
1 |
G |
282+17A/G |
|
polymorphism at ntd 282+17 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
373-4 |
1 |
G |
373-4C/G |
|
polymorphism at ntd 373-4 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
537 |
1 |
A |
537G/A |
|
polymorphism at ntd 537 (E/E179) |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
549+18 |
1 |
|
549+18CC/C |
|
polymorphism at ntd 549+18 |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |
P |
588 |
1 |
C |
588T/C |
|
polymorphism at ntd 588 (D/D196) |
- |
- |
- |
ND |
Kimura (1997) Nat Genet 16, 379 |