Article details

Barahona-Dussault et al. Clinical Genetics 2010;77:37-48.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC22C32Xc.96delCp.Cys32X 0/400 TFC+ Compound heterozygote: DSC2 C32X and I231T Mutation details
DSC26I231Tc.692T>Cp.Ile231Thr 0/400 TFC+ Compound heterozygote: DSC2 C32X and I231T Mutation details
DSC28T340Ac.1018A>Gp.Thr340Ala 0/400 TFC- Digenic: DSC2 T340A and PKP2 V837fsX930 Mutation details
DSC215I776Vc.2326A>Gp.Ile776Val   MAF: 8.3% Mutation details
DSC215R798Qc.2393G>Ap.Arg798Gln   MAF: 2.1% Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/0 TFC+   Mutation details
DSG28I293Vc.877A>Gp.Ile293Val   MAF: 10.4% Mutation details
DSG214E713Kc.2137G>Ap.Glu713Lys   MAF: 3.5% Mutation details
DSG214R773Kc.2318G>Ap.Arg773Lys   Reported as K773R; MAF: 25% Mutation details
DSG215V920Gc.2759T>Gp.Val920Gly   MAF: 0.4% Mutation details
DSP7I305Fc.913A>Tp.Ile305Phe   Reported as F305I; MAF: 2.1% Mutation details
DSP23Y1512Cc.4535A>Gp.Tyr1512Cys   MAF: 2.5% Mutation details
DSP23N1526Kc.4578C>Ap.Asn1526Lys   MAF: 1.3% Mutation details
DSP23R1537Cc.4609C>Tp.Arg1537Cys   MAF: 0.45% Mutation details
DSP23R1738Qc.5213G>Ap.Arg1738Gln   MAF: 4.2% Mutation details
DSP24E1833Vc.5498A>Tp.Glu1833Val   MAF: 1.5% Mutation details
DSP24C2501_E2502delc.7503_7508delTGAATGp.Cys2501_Glu2502del 0/400 TFC+   Mutation details
JUP3R142Hc.425G>Ap.Arg142His   MAF: 5.3% Mutation details
JUP14M697Lc.2089A>Tp.Met697Leu   MAF: 27.6% Mutation details
PKP23E137Kc.409G>Ap.Glu137Lys 0/400 TFC-   Mutation details
PKP23S169Gc.505A>Gp.Ser169Gly 0/400 TFC-   Mutation details
PKP24L366Pc.1097T>Cp.Leu366Pro   Rported as P366L; MAF: 17%; could be associated to a more benign phenotype Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0 TFC+   Mutation details
PKP28Splicec.1689-1G>Cr.spl? 0/400 TFC+   Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile   MAF: 0.8% Mutation details
PKP29Y631Cc.1892A>Gp.Tyr631Cys 0/400 TFC+ Compound heterozygote: PKP2 Y631C and V837fsX930 Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+   Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC+ Compound heterozygote: PKP2 Y631C and V837fsX930 Mutation details