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Table 1 Mutation description of group B cases (All other mutations)

From: A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

Gene

Mutation

Number of carriers

MYBPC3

p.Tyr79X

5 (1)

MYBPC3

p.Arg272Cys

1 (1)

MYBPC3

IVS7+5G>A

6 (3)

MYBPC3

p.Phe305fs

1 (1)

MYBPC3

IVS12-2A>G

1 (1)

MYBPC3

IVS13+1G>A

1 (1)

MYBPC3

p.Arg495Gly

2 (1)

MYBPC3

p.Ala701Thr

1 (1)

MYBPC3

p.Arg943X

2 (2)

MYBPC3

p.Gln969X

2 (1)

MYBPC3

p.Ile1131Thr

1 (1)

MYBPC3

p.Cys1244X

5 (1)

MYBPC3

p.Tyr1251X

1 (1)

MYH7

p.Thr177Ile

5 (1)

MYH7

p.Arg403Gln

1 (1)

MYH7

p.Val411Ile

3 (1)

MYH7

p.Arg453His

1 (1)

MYH7

p.Val606Met

6 (2)

MYH7

p.Asn696Ser

1 (1)

MYH7

p.Arg719Trp

1 (1)

MYH7

p.Arg719Gln

3 (1)

MYH7

p.Val878Gly

3 (1)

MYH7

p.1101_1104delGSQL

3 (1)

MYH7

p.Arg1420Trp

4 (2)

MYH7

p.Ile1927Phe

3 (1)

TNNT2

p.Ala157Ser

1 (1)

TNNT2

p.Arg278Cys

2 (2)

TNNI3

p.Arg136Gln

1 (1)

TNNI3

p.Lys183Asn

6 (2)

  1. Bold letters for mutations not reported by Millat et al. 2010 [15] or mutations reported in double heterozygotes ou compound heterozygotes by Millat et al. 2010 [15]. Numbers in parenthesis: number of families.