Details of mutation DSC2:R203C

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSC2R203Cc.607C>Tp.Arg203Cys518q12MissensePathogenic180Affect protein functionProbably damagingCadherin 1 

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Ohno et al. Circulation Journal 2013;77:1534-42. Article details 0/0 TFC+, N=1 also carries N194K and R132C in DSC2
Gehmlich et al. Cardiovascular Research 2010;90:77-87. Article details 0/400 TFC+1Failure of proteolytic processing of DSC2 protein and of cell border localization.
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SNP reports

No SNP reports found.