Article details

Tan et al. Journal of Cardiovascular Translational Research 2010;3:663-73.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC26G220Rc.658G>Ap.Gly220Arg 0/400 TFC-   Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG23V56Mc.166G>Ap.Val56Met 0/0 TFC+ Previously reported by Dalal et al. Mutation details
DSG25Splicec.523+2T>Cr.spl? 0/400 TFC+ Compound heterozygote: DSG2 523+2T>C and K346del Mutation details
DSG28G277fsX278c.829-1_835delp.Leu277GlyfsX2 0/0 TFC+ Previously reported by den Haan et al. Mutation details
DSG28D297Nc.889G>Ap.Asp297Asn 0/400 TFC+   Mutation details
DSG28W306Xc.918G>Ap.Trp306X 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/0 TFC+ Previously reported by den Haan et al. Mutation details
DSG29K346delc.1038_1040delGAAp.Lys346del 0/400 TFC+ Compound heterozygote: DSG2 523+2T>C and K346del Mutation details
DSG211C507Yc.1520G>Ap.Cys507Tyr 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG215G812Cc.2434G>Tp.Gly812Cys 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG215T1047Rc.3140C>Gp.Tyr1047Arg 0/400 TFC-   Mutation details
DSP10E422Kc.1264G>Ap.Glu422Lys 0/400 TFC+   Mutation details
DSP11I445Vc.1333A>Gp.Ile445Val 0/0 TFC+ Previously reported by den Haan et al. Mutation details
JUP2T19Ic.56C>Tp.Thr19Ile 0/0 TFC+ Previously reported by den Haan et al. Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+: N=4 & TFC-: N=1 Previously reported by Dalal et al. Digenic in one patient: DSG2 T335A Mutation details
PKP21Q74fsX85c.218dupGp.Asn74GlnfsX12 0/0 TFC-   Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP25Splicec.1171-2A>Gr.spl 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP25R413Xc.1237C>Tp.Arg413X 0/0 TFC+ Previously reported by den Haan et al. Mutation details
PKP25F424Sc.1271T>Cp.Phe424Ser 0/0 TFC+ Previously reported by Dalal et al in 2006. Mutation details
PKP25H436fsX446c.1307_1315delins8p.Leu436HisfsX11 0/0 TFC+ Previously reported by den Haan et al. Mutation details
PKP25N456fsX458c.1368delAp.Lys456AsnfsX3 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0 TFC+: N=5 Previously reported by Dalal et al. Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 TFC+ Previously reported by Dalal et al in 2006. Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0 TFC+ Previously reported by den Haan et al. Mutation details
PKP28S587fsX69c.1759delGp.Val587SerfsX655 0/400 TFC-   Mutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/0 TFC+ Previously reported by Dalal et al. in 2006 Mutation details
PKP210Splicec.2145+1G>Cr.spl 0/0 TFC+ Previously reported by den Haan et al. Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+: N=9 & TFC-: N=2 Previously reported by Dalal et al. Mutation details
PKP211V725Dc.2174T>Ap.Val725Asp 0/400 TFC+   Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0 TFC+: N=4 & TFC-: N=1 Digenic in one TFC+ patient: PKP2 A733fsX740 and DSP D297N Mutation details
PKP212L787Fc.2359C>Tp.Leu787Phe 0/0 TFC+ Previously reported by den Haan et al. Mutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/0 TFC+ Previously reported by Awad et al, homozygous mutation carriers Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+: N=5 Previously reported by Dalal et al. in 2006 Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC- Previously reported by Dalal et al. in 2006 Mutation details