Article details

Ohno et al. Circulation Journal 2013;77:1534-42.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23R132Cc.394C>Tp.Arg132Cys 0/0 TFC+, N=1 also carries N194K and R203C in DSC2 Mutation details
DSC25N194Kc.582C>Gp.Asn194Lys 0/0 TFC+ also carries R132C and R203C in DSC2 Mutation details
DSC25R203Cc.607C>Tp.Arg203Cys 0/0 TFC+, N=1 also carries N194K and R132C in DSC2 Mutation details
DSG211D494Ac.1481A>Cp.Asp494Ala 0/0 TFC+,N=2 reported in dbSNP (rs193298428) Mutation details
DSG211F531Cc.1592T>Gp.Phe531Cys 0/0 TFC+, N=1 also carries K1581E homozygous polymorfism in DSP Mutation details
DSG215P927Lc.2780C>Tp.Pro927Leu 1/200 TFC+,N=2 1 patient carries Q699X in PKP2 Mutation details
DSP4Q198Pc.593A>Cp.Gln198Pro 0/200 TFC+ also carries A326T (rs148480056) in PKP2 Mutation details
DSP10K401Nc.1203G>Tp.Lys401Asn 0/200 TFC+   Mutation details
DSP17Y787Cc.2360A>Gp.Tyr787Cys 0/200 TFC+   Mutation details
DSP23K1581Ec.4741A>Gp.Lys1581Glu 0/0 TFC+,N=2 1 patient carries F531C in DSP. K1581E is present in dbSNP (rs186842903) Mutation details
DSP24D2757Hc.8269G>Cp.Asp2757His 0/200 TFC+   Mutation details
DSP24M2819Lc.8455A>Cp.Met2819Leu 0/0     Mutation details
PKP23H318Pc.953A>Cp.His318Pro 0/0 TFC+ reported in dbSNP (rs181098323) Mutation details
PKP23A326Tc.976G>Ap.Ala326Thr 0/0 TFC+ carries Q1298P in DSP. A326T is reported in dbSNP(rs148480056) Mutation details
PKP24Q378Xc.1132C>Tp.Gln378X 0/0 TFC+, N=1   Mutation details
PKP28R577DfsX5c.1728_1729insGATGp.Arg577AspfsX5 TFC+, N=3   Mutation details
PKP210Q699Xc.2095C>Tp.Gln699X 0/0 TFC+, N=1   Mutation details
PKP210Q707Xc.2119C>Tp.Gln707X 0/0 TFC+, N=1   Mutation details
PKP211P717Lc.2150C>Tp.Pro717Leu 0/0 TFC+ reported in dbSNP (rs144018320) Mutation details