Number of distinct rare variants in genes associated with arrhythmogenic cardiomyopathy and ion channel disease
| Genes | Total number of distinct rare variants in each gene | Published | Novel | |
|---|---|---|---|---|
| Misssense variants predicted to be pathogenic in silico | Nonsense, frameshift or splice-site variants predicted to cause loss of function | |||
| Genes associated with arrhythmogenic cardiomyopathy | ||||
| DSC2 | 8 | 5 | 1 | |
| DSG2 | 9 | 4 | ||
| PKP2 | 6 | 3 | 1 | |
| DSP | 16 | 2 | 8 | 1 |
| JUP | 3 | 1 | ||
| TMEM43 | 2 | 1 | ||
| TGF-β3 | 0 | |||
| Subtotal | 44 | 14 | 10 | 3 |
| Genes associated with ion-channel disease | ||||
| KCNQ1 | 4 | 1 | 1 | |
| KCNH2 | 2 | |||
| SCN5A | 9 | 1 | 5 | 1 |
| KCNE1 | 2 | |||
| KCNE2 | 0 | |||
| KCNJ2 | 0 | |||
| ANK2 | 18 | 3 | 2 | 1 |
| CASQ2 | 2 | |||
| CAV3 | 1 | 1 | ||
| RYR2 | 12 | 1 | 2 | 4 |
| Subtotal | 50 | 7 | 10 | 6 |
| TOTAL | 94 | 21 | 20 | 9 |