Details of mutation DSC2:T275M

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSC2T275Mc.824C>Tp.Thr275Met718q12MissensePathogenic81Affect protein functionProbably damagingCadherin 2Homozygous in affected patient

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Gehmlich et al. Cardiovascular Research 2010;90:77-87. Article details 0/400 TFC+ Impaired proteolytic processing of DSC2 protein and dimished cell border localization.
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SNP reports

No SNP reports found.