Details of mutation DSG2:N266S

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSG2N266Sc.797A>Gp.Asn266Ser718q12MissensePathogenic46Affect protein functionProbably damagingCadherin 2  DSG2_00022

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Rigato et al. Circulation Cardiovascular Genetics 2013;6:533-42. Article details 0/0 TFC+; N=4 See Pilichou et al 2006
Pilichou et al. Journal of Experimental Medicine 2009;206:1787-802. Article details 0/0 Previously reported Transgenic mice overexpressing the mouse homologue of the DSG2-N266S mutation recapitulate the pathognomonic features of the human disease, including sudden death, spontaneous ventricular arrhythmias, ECG characteristics of conduction slowing, cardiac dysfunction, ventricular dilatation and aneurysms, myocardial atrophy, and fibrosis.
Rampazzo et al. European Heart Journal 2008;29:Suppl; 737. Article details 0/0   See Pilichou et al. Reported as "possibly pathogenic mutation"
Pilichou et al. Circulation 2006;113:1171-9. Article details 0/560 TFC+11 related mutation carrier is TFC-
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SNP reports

No SNP reports found.