Table 2.
Identified previously described PKP2 gene genetic variations
| Variation | Protein change | SNP db# | Frequency in ARVD patients | Frequency in LV individuals | Frequency in EUR individuals |
|---|---|---|---|---|---|
| PKP2 gene benign genetic variations | |||||
| c.1097T>C | p.(Leu366Pro) | rs1046116 | 0.10 | 0.17 (P=0.43) | 0.21 (P=0.24) |
| c.2145+45G>A | p.(=) | rs10772008 | 0.22 | NA | 0.19 (P=0.5) |
| c.2145+72A>G | p.(=) | rs7967264 | 0.04 | NA | 0.067 (P=1) |
| c.2578-69G>A | p.(=) | rs7956824 | 0.45 | NA | 0.32 (P=0.08) |
| c.2489+14insC | p.(=) | NA | 0.10 | 0.13 (P=0.58) | NA |
| c.2300-21delG | p.(=) | rs57690055 | 0.12 | 0.13 (P=1) | NA |
| PKP2 gene pathogenic genetic variation | |||||
| c.2489+1G>A | Splice site affected | rs111517471 | 0.02 | 0 | 0 |
| c.1592T>G | p.(Ile531Ser) | rs147240502 | 0.07 | 0 | 0.006 (P=0.0005) |