Article details

Quarta et al. Circulation 2011;123:2701-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23E102Kc.304G>Ap.Glu102Lys 0/0 TFC+, N=3   Mutation details
DSC210M477fsX480c.1430delCp.Thr477MetfsX4 0/0 TFC+ See Syrris et al. Mutation details
DSC212S574Nc.1721G>Ap.Ser574Asn 0/600 TFC+   Mutation details
DSC214L732Vc.2194T>Gp.Leu732Val 0/0 TFC+   Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 0/0 TFC+, N=3 Functional abnormalities of this variant shown - preliminary and unpublished data Mutation details
DSG21M1Ic.3G>Cp.0 0/0 TFC+ See Syrris et al. Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0 TFC+   Mutation details
DSG23V56Mc.166G>Ap.Val56Met 0/0 TFC+ See Syrris et al. Mutation details
DSG25D154Ec.462C>Ap.Asp154Glu 0/0 TFC+ See Syrris et al. Mutation details
DSG25V158Gc.473T>Gp.Val158Gly 0/0 TFC+, N=2 See Syrris et al. Mutation details
DSG27V239Ac.716T>Cp.Val239Ala 0/600 TFC+   Mutation details
DSG27D264Ec.792T>Ap.Asp264Glu 0/0 TFC+   Mutation details
DSG28L277_M280delc.829_840del12p.Leu277_Met280del 0/0 TFC+ See Syrris et al. Mutation details
DSG28E331Kc.991G>Ap.Glu331Lys 0/0 TFC+   Mutation details
DSG28I333Tc.998T>Cp.Ile333Thr 0/600 TFC+   Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/0 TFC+, N=2   Mutation details
DSG29K346delc.1038_1040delGAAp.Lys346del 0/0 TFC+   Mutation details
DSG29S351Gc.1051A>Gp.Ser351Gly 0/0 TFC+, N=2   Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/0 TFC+   Mutation details
DSG211N493Sc.1478A>Gp.Asn493Ser 0/600 TFC+   Mutation details
DSG212C591Xc.1773_1774delTGp.Cys591X 0/0 TFC+ See Syrris et al. Mutation details
DSG215V920Gc.2759T>Gp.Val920Gly 0/0 TFC+, N=2 See Syrris et al. Mutation details
DSG215T1056Ic.3167C>Tp.Thr1056Ile 0/600 TFC+   Mutation details
DSP7N274fsX288c.818_819insAp.Asn274GlufsX15 0/0 TFC+   Mutation details
DSP8N316fsX324c.946_947insATACGCAp.Met316AsnfsX9 0/600 TFC+   Mutation details
DSP10N408Kc.1224C>Gp.Asn408Lys 0/600 TFC+   Mutation details
DSP11S442Fc.1325C>Tp.Ser442Phe 0/0 TFC+ See Sen-Chowdhry et al. Mutation details
DSP12S507Fc.1520C>Tp.Ser507Phe 0/0 TFC+ See Sen-Chowdhry et al. Mutation details
DSP14T586fsX594c.1755_1756insAp.His586ThrfsX9 0/0 TFC+ See Sen-Chowdhry et al. Mutation details
DSP14Q625Xc.1873C>Tp.Gln625X 0/600 TFC+   Mutation details
DSP16Splicec.2131-1G>Ar.spl? 0/600 TFC+   Mutation details
DSP19R908Hc.2723G>Ap.Arg908His 0/600 TFC+, N=2 Mutation present in unaffected mother (58y). Father, with T-wave inversions in V1-V2 did not carry the mutation. Mutation details
DSP20R941Xc.2821C>Tp.Arg941X 0/600 TFC+   Mutation details
DSP22S1015fsX1017c.3045delGp.Arg1015SerfsX3 0/0 TFC+ See Sen-Chowdhry et al. Mutation details
DSP23R1113Xc.3337C>Tp.Arg1113X 0/0 TFC+ See Sen-Chowdhry et al. Mutation details
DSP23L1178Vc.3532C>Gp.Leu1178Val 0/600 TFC+   Mutation details
DSP23N1526Kc.4578C>Ap.Asn1526Lys 0/0 TFC+   Mutation details
DSP23L1535Pc.4604T>Cp.Leu1535Pro 0/600 TFC+   Mutation details
DSP24E1833Vc.5498A>Tp.Glu1833Val 0/0 TFC+   Mutation details
DSP24R2759Sc.8275C>Ap.Arg2759Ser 0/600 TFC+   Mutation details
DSP24T2767Nc.8300C>Ap.Thr2767Asn 0/0 TFC+   Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+ See Syrris et al. Mutation details
PKP21S70Ic.209G>Tp.Ser70Ile 0/0 TFC+, N=5   Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 TFC+, N=23Not present in proband's daughter (36y) with NSVT and VES on Holter Mutation details
PKP23E259Xc.775G>Tp.Glu259X 0/600 TFC+   Mutation details
PKP24A372Pc.1114G>Cp.Ala372Pro 0/0 TFC+ Probands mother carried this variant. She experienced NSVT on Holter. Affected offspring carried PKP2 S615F Mutation details
PKP25R413Xc.1237C>Tp.Arg413X 0/0 TFC+, N=2 See Syrris et al. Mutation details
PKP27T526Mc.1577C>Tp.Thr526Met 0/0 TFC+, N=2   Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 0/0 TFC+, N=3   Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0 TFC+   Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0 TFC+   Mutation details
PKP28V600fsX655c.1799delAp.Asp600ValfsX56 0/600 TFC+   Mutation details
PKP29S615Fc.1844C>Tp.Ser615Phe 0/0 TFC+4Mutation cosegregated in affected sibs; father carried the same mutation, but unaffected at age 55. Mutation details
PKP210W676Xc.2028G>Ap.Trp676X 0/0 TFC+   Mutation details
PKP210S688Pc.2062T>Cp.Ser688Pro 0/0 TFC+   Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0 TFC+, N=3 See Syrris et al. Mutation details
PKP211L753Qc.2258T>Ap.Leu753Gln 0/600 TFC+   Mutation details
PKP212I819Nc.2456T>Ap.Ile819Asn 0/600 TFC+   Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+   Mutation details