Table 2.
Novel putative mutations found in this study.1
| No. | Gene | Exon/intron | Mutation2 | Consequence3 |
|---|---|---|---|---|
| 1 | MYH7 | exon 8 | c.641G>A | p.Gly214Asp |
| 2 | MYH7 | exon 8 | c.646C>G | p.Leu216Val |
| 3 | MYH7 | exon 9 | c.776C>A | p.Ala259Glu |
| 4 | MYH7 | exon 10 | c.842G>C | p.Arg281Thr |
| 5 | MYH7 | exon 16 | c.1681G>A | p.Ala561Thr |
| 6 | MYH7 | exon 21 | c.2348G>A | p.Arg783His |
| 7 | MYH7 | exon 27 | c.3346G>A | p.Glu1116Lys |
| 8 | MYH7 | exon 27 | c.3613G>A | p.Glu1205Lys |
| 9 | MYBPC3 | exon 7 | c.709T>C | p.Tyr237His |
| 10 | MYBPC3 | exon 13 | c.932CC>CA | p.Ser311X |
| 11 | MYBPC2 | intron 14 | c.1223+1G>T | splice defect |
| 12 | MYBPC3 | intron 14 | c.1224–19G>A | splice defect |
| 13 | MYBPC3 | intron 31 | c.3330+2T>C | splice defect |
1
The listed SNVs have not yet been reported in public mutation/SNP databases (http://www.cardiogenomics.org, http://www.hgmd.cf.ac.uk, http://www.ncbi.nlm.nih.gov/SNP/snp_blastByOrg.cgi; all 3 accessed June 2007). These mutations were considered putative disease-causing mutations on the basis of a finding that (a) the affected amino acid was conserved during evolution or (b) a splice site was either created or abolished.
2
See Materials and Methods for the GenBank entries for the reference sequences to which the nomenclature refers.
3
As deduced from the DNA alteration.