Article details

Lahtinen et al. Heart Rhythm 2011;8:1214-21.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC22L37Lc.111A>Gp.Leu37=   MAF 1.7% in 29 ARVC patients Mutation details
DSC23T117Tc.351A>Gp.Thr117=   MAF 3.4% in 29 ARVC patients Mutation details
DSC215I776Vc.2326A>Gp.Ile776Val   MAF 10.3% in 29 ARVC patients Mutation details
DSC215R798Qc.2393G>Ap.Arg798Gln   MAF 13.8% in 29 ARVC patients Mutation details
DSG21A2Ac.6G>Ap.Ala2=   MAF 1.7% in 29 ARVC patients Mutation details
DSG25V158Gc.473T>Gp.Val158Gly   MAF 1.7% in 29 ARVC patients Mutation details
DSG28N287Nc.861C>Tp.Asn287=   MAF 43.1% in 29 ARVC patients Mutation details
DSG28I293Vc.877A>Gp.Ile293Val   MAF 19.0% in 29 ARVC patients Mutation details
DSG214E713Kc.2137G>Ap.Glu713Lys   MAF 8.6% in 29 ARVC patients Mutation details
DSG214R773Kc.2318G>Ap.Arg773Lys   MAF 39.7% in 29 ARVC patients Mutation details
DSG215T835Tc.2505A>Gp.Thr835=   MAF 3.4% in 29 ARVC patients Mutation details
DSG215A1020fsX1027c.3059_3062delAGAGp.Glu1020AlafsX18 0/500 TFC+3IHC showed reduced signals for DSG2, PKP2, JUP, and DSP. Presence in population sample: 1/6.334 (.02%) Mutation details
DSG215V1107Vc.3321T>Cp.Val1107=   MAF 43.1% in 29 ARVC patients Mutation details
DSP1Y42Yc.126T>Cp.Tyr42=   MAF 6.9% in 29 ARVC patients Mutation details
DSP7I305Fc.913A>Tp.Ile305Phe   MAF 1.7% in 29 ARVC patients Mutation details
DSP15G697Gc.2091A>Gp.Gly697=   MAF 37.9% in 29 ARVC patients Mutation details
DSP19R877Rc.2631G>Ap.Arg877=   MAF 43.1% in 29 ARVC patients Mutation details
DSP20C954Cc.2862C>Tp.Cys954=   MAF 22.4% in 29 ARVC patients Mutation details
DSP23T1373Ac.4117A>Gp.Thr1373Ala 0/500 TFC+ Presence in population sample: 5/6.334 (.08%) Mutation details
DSP23Y1512Cc.4535A>Gp.Tyr1512Cys   MAF 6.9% in 29 ARVC patients Mutation details
DSP23V1530Fc.4588G>Tp.Val1530Phe   MAF 3.4% in 29 ARVC patients Mutation details
DSP23R1537Cc.4609C>Tp.Arg1537Cys   MAF 1.7% in 29 ARVC patients Mutation details
DSP23R1738Qc.5213G>Ap.Arg1738Gln   MAF 24.1% in 29 ARVC patients Mutation details
DSP24E1833Vc.5498A>Tp.Glu1833Val   MAF 1.7% in 29 ARVC patients Mutation details
DSP24T2374Tc.7122C>Tp.Thr2374=   MAF 20.7% in 29 ARVC patients Mutation details
DSP24R2725Rc.8175C>Ap.Arg2725=   MAF 1.7% in 29 ARVC patients Mutation details
DSP24G2824Gc.8472G>Cp.Gly2824=   MAF 46.6% in 29 ARVC patients Mutation details
PKP21Q59Lc.176A>Tp.Gln59Leu   Presence in population sample: 19/6.334 (.30%) Mutation details
PKP21Q62Kc.184C>A p.Gln62Lys   Presence in population sample: 6/6.334 (.09%) Mutation details
PKP29N613Kc.1839C>Gp.Asn613Lys   Presence in population sample: 0/6.334 (<.02%) Mutation details