Article details

Klauke et al. Human Molecular Genetics 2010;19:4595-607.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES1N116Sc.347A>Gp.Asn116Ser 0/640 TFC+   Mutation details
DSC213L638fsX647c.1913_1916delAGAAp.Gln638LeufsX10 0/640 TFC+, HTx1SCD in 27y old sib Mutation details
DSC215R798Qc.2393G>Ap.Arg798Gln   MAF: 7% Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 12/790 TFC-2Classified as polymorphism Mutation details
DSG21M1Ic.3G>Cp.0 0/0 TFC+2Compound heterozygote: patient also carries DSG2 D494M Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/640 TFC+, HTx0Clinically unaffected sib (45y) carries the mutation Mutation details
DSG211D494Nc.1480G>Ap.Asp494Asn 0/640 TFC+2Compound heterozygote: patient also carries DSG2 M1L Mutation details
DSG214E713Kc.2137G>Ap.Glu713Lys 4/172 TFC- Considered a polymorphism Mutation details
DSP23N1726Kc.5178C>Ap.Asn1726Lys 0/640 TFC- Considered as polymorphism Mutation details
DSP24G2844Vc.8531G>Tp.Gly2844Val 0/640 TFC- Did not cosegregate Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 10/726   Considered as polymorphism Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/640 TFC+   Mutation details
PKP23Q220Xc.658C>Tp.Gln220X 0/640 TFC+   Mutation details
PKP28E601fsX55c.1803delCp.D601EfsX655 0/640 TFC+, HTx   Mutation details
PKP211Q726Xc.2176C>Tp.Gln726X 0/640 TFC+, HTx4Family history: 4 cases of SCD Mutation details
PKP212R811Sc.2431C>Ap.Arg811Ser 0/640 TFC+   Mutation details