Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Symptom |
Hereditary Pattern |
Ethnic Origin |
Onset |
Maxmal left-ventricular-wall tickness(・)
|
Reference |
M |
236 |
1 |
A |
I79N |
9 |
ATC-AAC at ntd 236 -> Ile-Asn at codon 79 |
*2 |
AD*7 |
Europe, North America, South America, Africa, India |
A 16-years-old boy with I79N mutation who had normal findings on clinical evaluation neverthless died suddenly. |
13.4± 4 |
Watkins (1995) N Engl J Med 332, 1058 |
M |
275 |
1 |
A |
R92Q |
32 |
CGG-CAG at ntd 275 -> Arg-Gln at codon 92 |
*2 |
AD |
Europe, North America, South America, Africa, India |
Patients with cardiac troponin T mutations had a higher incidence of death before the age of 30 years. |
15.0± 6 |
Watkins (1995) N Engl J Med 332, 1058 |
M |
328 |
1 |
A |
F110I |
2 |
TTT-ATT at ntd 328 -> Phe-Ile at codon 110 |
*2 |
AD |
Europe, North America, South America, Africa, India |
Patients with cardiac troponin T mutations had a higher incidence of death before the age of 30 years. |
17 |
Watkins (1995) N Engl J Med 332, 1058 |
M |
487 |
1 |
A |
E163K |
5 |
GAG-AAG at ntd 487 -> Glu-Lys at codon 163 |
*2 |
AD |
Europe, North America, South America, Africa, India |
Patients with cardiac troponin T mutations had a higher incidence of death before the age of 30 years. |
19.8± 8 |
Watkins (1995) N Engl J Med 332, 1058 |
M |
732 |
1 |
T |
E244D |
1 |
GAG-GAT at ntd 732 -> Glu-Asp at codon 244 |
*2 |
AD |
Europe, North America, South America, Africa, India |
Patients with cardiac troponin T mutations had a higher incidence of death before the age of 30 years. |
ND |
Watkins (1995) N Engl J Med 332, 1058 |
M |
832 |
1 |
T |
R278C |
3 |
CGC-TGC at ntd 832 -> Arg-Cys at codon 278 |
*2 |
AD |
Europe, North America, South America, Africa, India |
A girl with R278C mutation and normal ventricular-wall measurements was resuscitated after a cardiac arrest at the age of 17. |
16.3± 6 |
Watkins (1995) N Engl J Med 332, 1058 |
D |
478 |
3 |
|
478delGAG |
32 |
3-bp del GAG at codon 160 |
*2 |
AD |
Europe, North America, South America, Africa, India |
Patients with cardiac troponin T mutations had a higher incidence of death before the age of 30 years. |
17.5± 5 |
Watkins (1995) N Engl J Med 332, 1058 |
M |
275 |
1 |
T |
R92L |
|
CGG-CTG at ntd 275 -> Arg-Leu at codon 92 |
*3 |
AD |
France |
ND |
15± 6 |
Forissier(1996) Circulation 94,3069 |
M |
274 |
1 |
T |
R92W |
19 |
CGG-TGG at ntd 274 -> Arg-Trp at codon 92 |
*4 |
AD |
ND |
The mean age of sudden cardiac death was 17± 9 years. All of the sudden cardiac deaths occurred in young male subject. |
11.3± 5.4 |
Moolman(1997) J Am Coll Cardiol 29,549 |
M |
311 |
1 |
T |
A104V |
5 |
GCG-GTG at ntd 311 -> Ala-Val at codon 104 |
*5 |
AD |
Japan |
35~50 years old |
ND |
Nakajima-T(1997) J Mol Cell Cardiol 29,839 |
S |
821+1 |
1 |
A |
821+1G->A |
28 |
G->A at ntd 821+1 |
*6 |
AD |
ND |
ND |
ND |
Thierfelde(1994) Cell 77,701 |