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Details of mutation DSG2:N266S

Gene	Mutation	DNA change	Protein change	Exon	Locus	Type	Reported Classification	Grantham Score	SIFT	PolyPhen	Domain	Notes	LOVD ID
DSG2	N266S	c.797A>G	p.Asn266Ser	7	18q12	Missense	Pathogenic	46	Affect protein function	Probably damaging	Cadherin 2		DSG2_00022

Clinical reports of this mutation in patients and controls

Article	Article details	Controls	Patient	# Affected Relatives	Notes
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+	1	1 related mutation carrier is TFC-

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SNP reports

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