Mutation data of the TNNT2 gene in hypertropic cardiomyopathy

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

*1 Abbreviations are as follows: M, Missense; D, Deletion; S, Splicing.
*2: The clinical phenotype of four troponin T mutations in seven unrelated families was similar and was characterized by a poor prognosis (life expectancy, approximately 35 years) and a high incidence of sudden death.
*3: This mutation is no sudden cardiac death, and the two disease-related death is due to heart failure.
*4: The clinical phenotype was characterized by minimal hypertrophy and low disease penetrance by clinical criteria but a high incidence of sudden cardiac death.
*5: The disease in the kindred was severe and there was a high incidence of sudden or disease-related deaths in the kindred with this mutation.
*6: The severity and distribution of cardiac hypertrophy found in affected individuals varies widely and correlates poorly with clinical symptoms of dyspnea, angina or sudden death.
*7 Abbreviations are as follows: AD, Autosomal Dominant; ND, Not Described.







Last updated 29 March 2000