Table 2.
Novel SCN5A Single Nucleotide Polymorphisms Identified in Familial Cardiomyopathy Registry Screening*
| Intronic | Exonic | |
|---|---|---|
| Exon 3 | −24C>T | |
| Exon 4 | +16G>C, +60A>T | |
| Exon 6 | +45C>A | V210V GTG>GTA |
| Exon 9 | +34G>A | P336P CCG>CCA |
| Exon 10 | −3C>A | |
| Exon 12 | −15T>C | P627P CCG>CCA |
| Exon 15 | +12 G>A | L771L CTC>CTT |
| Exon 16 | −5C>A, −13C>T | |
| Exon 17 | −6C>A | |
| Exon 24 | +38T>A, +43Ins |
*
The SCN5A screening identified a number of unreported nucleotide changes among our dilated cardiomyopathy population. Within coding regions, these changes are all consensus alterations or silent substitutions and are not believed to be associated with disease manifestation.