Article details

Xu et al. Journal of the American College of Cardiology 2010;55:587-97.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC27P292Sc.874C>Tp.Pro292Ser 0/1400     Mutation details
DSC28I342Vc.1026A>Gp.Ile342Val 0/1400     Mutation details
DSC211Q554Xc.1660C>Tp.Gln554X 0/1400     Mutation details
DSC213Q638Hc.1914G>Cp.Gln638His 0/0   See den Haan et al. Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/0 TFC+ Also carries PKP2 I531S variant Mutation details
DSG23V56Mc.166G>Ap.Val56Met 0/0   See Dalal et al. Mutation details
DSG25R146Hc.437G>Ap.Arg146His 0/0 TFC+ Previously reported by Rampazzo et al. Carries PKP2 S209R and R816fsX825 Mutation details
DSG26D187Gc.560A>Gp.Asp187Gly 0/1400     Mutation details
DSG28F321Ic.961T>Ap.Phe321Ile 0/1400     Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/0 TFC+ See den Haan et al. Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/0 TFC+ See Bauce et al. Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/1400 TFC+ Compound heterozygote: PKP2 W538X and Q638H Mutation details
DSP2Q90Rc.269A>Gp.Gln90Arg 0/1400 TFC+ Digenic: PKP2 S406fsX409 Mutation details
DSP5W207Xc.620G>Ap.Trp207X 0/1400 TFC+ Also carries PKP2 I531S variant Mutation details
DSP5D230Nc.688G>Ap.Asp230Asn 0/1400     Mutation details
DSP12Y494Fc.1481A>Tp.Tyr494Phe 0/1400     Mutation details
DSP13I553Tc.1598T>Cp.Ile553Thr 0/1400     Mutation details
DSP23R1255Kc.3764G>Ap.Arg1255Lys 0/0   Previously reported by Bauce et al. Carries PKP2 Q211X and I778T Mutation details
DSP23R1537Cc.4609C>Tp.Arg1537Cys 0/0   See den Haan et al. Mutation details
DSP23L1654Pc.4961T>Cp.Leu1654Pro 0/0 TFC+ See Bauce et al. Mutation details
DSP24R2834Hc.8501G>Ap.Arg2834His 0/1400     Mutation details
JUP3I131delc.392_392delTCAp.Ile131del 0/1400     Mutation details
JUP4V159Lc.475G>Tp.Val159Leu 0/1400     Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+ See Bauce et al. 2010 Mutation details
PKP21Q62Kc.184C>A p.Gln62Lys 0/0 TFC+ See Bauce et al. Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0   Previously reported by Dalal et al. Mutation details
PKP23S209Rc.627C>Gp.Ser209Arg 0/0 TFC+ Previously reported by Rampazzo et al. Carries PKP2 R816fsX825 and DSG2 R146H Mutation details
PKP23Q211Xc.631C>Tp.Gln211X 0/0 TFC+ Previously reported by Rampazzo et al. Carries PKP2 I778T and DSP R1255K Mutation details
PKP24A372Pc.1114G>Cp.Ala372Pro 0/0   See den Haan et al. Mutation details
PKP24R388Wc.1162C>Tp.Arg388Trp 0/1400 TFC+   Mutation details
PKP25Splicec.1171-2A>Gr.spl 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP25S406fsX409c.1211dupTp.Val406SerfsX4 0/1400 TFC+ Reported as L404fsX409; Digenic: DSP Q90R Mutation details
PKP25N456fsX458c.1368delAp.Lys456AsnfsX3 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 0/0   See den Haan et al. Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0   Previously reported by Dalal et al. Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 TFC+ Previously reported by Rampazzo et al. Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0 TFC+ See Basso et al. Mutation details
PKP210Q660Xc.1978C>Tp.Gln660X 0/1400     Mutation details
PKP210N670fsX683c.2009delCp.Asn670ThrfsX14 0/0   See Basso et al. Mutation details
PKP210Q707Xc.2119C>Tp.Gln707X 0/0 TFC+ See Basso et al. and Bauce et al. Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0   Previously reported by Dalal et al. Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0   Previously reported by Dalal et al. Mutation details
PKP212I778Tc.2333T>Cp.Ile778Thr 0/0 TFC+ Previously reported by Rampazzo et al. Carries PKP2 Q211X and DSP R1255K Mutation details
PKP212L787Fc.2359C>Tp.Leu787Phe 0/0 TFC+ Also carries PKP2 I531S variant Mutation details
PKP212R816fsX825c.2447_2448delCCp.Thr816ArgfsX10 0/0 TFC+ Previously reported by Rampazzo et al. Carries PKP2 S209R and DSG2 R146H Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0   Previously reported by Dalal et al. in 2006 Mutation details