| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 1 | Q62K | c.184C>A | p.Gln62Lys |
0/0
| | | Functional data: abnormal connexin43 organization at the intercalated disk; possible gap junction abnormalities through impairment of crucial binding events |
Mutation details
|
| PKP2 | 5 | D460fsX464 | c.1378+1G>A | p.His461SerfsX4 |
0/0
| | | Functional data: decrease in connexin43 quantity, normal N-cadherin and PKP2 positioning and expression |
Mutation details
|
| PKP2 | 8 | L586fsX658 | c.1755_1756ins8 | p.Val587ThrfsX72 |
0/0
| | | Functional data: increased ectopic connexin43 expression, decreased N-cadherin and connexin43 colocalization |
Mutation details
|
| PKP2 | 9 | R635W | c.1903C>T | p.Arg635Trp |
0/0
| | | Functional data: increased ectopic connexin43 expression, decreased N-cadherin and connexin43 colocalization |
Mutation details
|