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Table 1 MYBPC3 mutations detected in this study

From: Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

No. of family or single patient Exon/IVS* Nucleotide position and change Amino acid change Affected Genotyped total/pos. Reference, comment
1 IVS1 c.26-2A>G unknown 3 (1) 2/2 Novel (similar [17])
2 2 c.141delT p.S47fs 3 2/2 Novel
3 6 c.711C>A p.Y237X 1 1/1 Novel
4 6 c.772G>A p.E258K 1 1/1 [6, 22, 2527]
5 7 c.814C>T p.R272C 1 (1) 6/4 Novel§
6 IVS11 c.927-2A>G unknown 2 (1) 4/2 [6, 25]
7 12 c.1006A>G p.I336V 1 1/1 Novel
8 15 c.1235_1236delTT p.F412fs 2 2/2 [17, 25]
9 17 c.1484G>A p.R495Q 1 1/1 [6, 17, 28]
10 17 c.1505G>A p.R502Q 1 1/1 [6, 21, 29]
11 18 c.1699_1670delGA p.E567fs 3 3/2 [17]
12 IVS23 c.2308+1G>A unknown 5 (3) 8/5 [19, 25]
13 25 c.2437_2439delAAG p.K814del 2 (1) 1/1 [17, 27, 29, 30]
14 26 c.2670G>A p.W890X 3 5/2 [17]
15 27 c.2870C>G p.T957S 1 1/1 Novel
4 27 c.2873C>T p.T958I 1 1/1 [31]
16 IVS31 c.3490+1G>T unknown 7 7/6 Novel§ (similar [32])
17 33 c.3697C>T p.Q1233X 4 (1) 6/5 [18, 19]; polymorphism [17]
18 33 c.3697C>T p.Q1233X 3 (1) 3/2  
  1. *IVS: intervening sequence; Numbering refers to the coding sequence of GenBank acc. no. U91629http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=U91629.1 starting with the A of start codon ATG as position 1; additional relatives with suspected disease in brackets; §DCM phenotype of the index patient