Article details

Gaertner et al. PLoS One 2012;7:e47097.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0   Impaired prodomain cleavage and an influence on the DSG2-properties could be demonstrated, leading to the classification of the variant as a potential gain-of-function mutant Mutation details
DSG25D154Ec.462C>Ap.Asp154Glu 0/0   No detectable effects on the DSG2 protein properties Mutation details
DSG26D187Gc.560A>Gp.Asp187Gly 0/0   No detectable effects on the DSG2 protein properties Mutation details
DSG28K294Ec.880A>Gp.Lys294Glu 0/0   No functional differences compared to the wild-type protein Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/0   No functional differences compared to the wild-type protein Mutation details