Mutation data of the MYBPC3 gene in familial hypertropic cardiomyopathy

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Symptom*2 Hereditary Pattern Ethnic Origin Onset Age Reference
M 772 1 A E258K 7 GAG-AAG at ntd 772 -> Glu-Lys at codon 258 1 AD*3 ND*4 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
M 1351 1 C E451Q 20 GAG-CAG at ntd 1351 -> Glu-Gln at codon 451 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
M 1484 1 A R495Q 6 CGG-CAG at ntd 1484 -> Arg-Gln at codon 495 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
M 1505 1 A R502Q 16 CGG-CAG at ntd 1505 -> Arg-Gln at codon 502 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
FD 2093, 4, 5 or 6 1   2095delC 11 1-bp del C at ntd 2093, 4, 5 or 6 -> frameshift at codon 699 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
FD 2864 2   2864delCT 18 2-bps del CT at ntd 2864 -> frameshift at codon 955 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
FI 2373 0 G 2373insG 115 1-bp ins G at nt 2373 -> frameshift at codon 792 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
FI 3126 0 AA 3126insAA 15 2-bps ins AA at ntd 3126 -> frameshift at codon 1043 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
S 851+1 1 A 851+1G->A 9 G-A at ntd 851+1 in IVS 8 -> aberrant splicing 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
S 1091-2 1 G 1091-2A->G 26 A-G at ntd 1091-2 in IVS 12 -> aberrant splicing 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
S 2413+1 1 T 2413+1G->T 7 G-T at ntd 2413+1 in IVS 24 -> aberrant splicing 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
S 3814+1 1 A 3814+1G->A 25 G-A at ntd 3814+1 in IVS 33 -> aberrant splicing 1 AD ND 58% under 50 years age Niimura (1998) N Engl J Med 338, 1248
M 1624 1 C E542Q 1 GAA-CAA at ntd 1624 -> Glu-Gln at codon 542 ND AD French One is a very late onset (59years), the others are 10, 32, 33 years. Carrier (1997) Circ Res 80, 427
FD 2534 5   2534del5 1 5-bps del GCGTC at ntd 2534 -> frameshift at codon 845 ND AD French One is a very late onset (59years), the others are 10, 32, 33 years. Carrier (1997) Circ Res 80, 427
ID 3659 4 TTCAAGAATGGC 3659indelACTT->12bps 1 4-bps del ACCT and 12-bps ins TTCAAGAATGGC at nt 3659 ND AD French One is a very late onset (59years), the others are 10, 32, 33 years. Carrier (1997) Circ Res 80, 427
S 821+5 1 A 821+5G->A 1 G-A at ntd 821+5 in IVS 7 -> aberrant splicing ND AD French One is a very late onset (59years), the others are 10, 32, 33 years. Carrier (1997) Circ Res 80, 427
S 2309-26 1 G 2309-26A->G 1 A-G at ntd 2309-26 in IVS 23 -> aberrant splicing ND AD French One is a very late onset (59years), the others are 10, 32, 33 years. Carrier (1997) Circ Res 80, 427
S 2308+1 1 A 2308+1G->A 1 G-A at ntd 2308+1 in IVS 23 -> aberrant splicing ND AD French One is a very late onset (59years), the others are 10, 32, 33 years. Carrier (1997) Circ Res 80, 427
M 1961 1 A R654H 1 CGC-CAC at ntd 1961 -> Arg-His at codon 654 2 AD south African under 40 years age Moolman-Sm (1998) J Med Genet 35, 253
M 2265 1 A N755K 1 AAC-AAA at ntd 2265 -> Asn->Lys at codon 755 3 AD Australian One died at 47 years. Yu (1998) J Med Genet 35, 205
N 2905 1 T Q969X 1 CAA-TAA at ntd 2905 -> Gln-Stop at codon 969 3 AD Australian One died at 47 years. Yu (1998) J Med Genet 35, 205
S as-2 1 G   25 A->G at nt ? 4 AD French ND Bonne (1995) Nat Genet 11, 438
S ds+5 1 C   1 G->C at nt ? 5 AD ND One is teenager, the other is over 35 years. Watkins (1995) Nat Genet 11, 434
I 3507 0 GGGGGCATCTATGTCTGC 3507ins18 1 18-bps ins GGGGGCATCTATGTCTGC at ntd 3507 5 AD ND One is teenager, the other is over 35 years. Watkins (1995) Nat Genet 11, 434
S 3490+1 1 A 3490+1G->A 1 G-A at ntd 3490+1 in IVS 31 -> aberrant splicing 6 AD German and Turkish ND Rottbauer(1997) J Clin Invest 100, 475

*1 Abbreviations are as follows: M, Missense; N, Nonsense; I, Insertion; FI, Frameshift Insertion; FD, Frameshift Deletion; ID, Insertion and Deletion; S, Splicing.
*2 Abbreviations are as follows: 1, Serious arrhythmias, and the early onset of marked hypertrophy and poor survival. Most deaths due to cardiac causes in these families occurred suddenly. The age at onset differed markedly. ; 2, disease of the sarcomere manifesting as a primary cardiac disorder, characterised by myocardial hypertrophy, especially of the interventricular disarray; 3, Affected mice show both the histrogical features found in the human disorder and the complication of sudden death during exercise.; 4, A ventricular hypertrophy predominantly affecting the interventricular septum and associated with a large extent of myocardial and myofibrillar disarray. It is the most common cause of sudden death in the young.; 5, cardiac hypertrophy with myocyte disarray and an increased risk of sudden death; 6, unexplained cardiac hypertrophy.
*3,4 Abbreviations are as follows: AD, Autosomal Dominant; ND, Not Described.







Last updated 19 July 1999