Details of mutation DSG2:E713K

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSG2E713Kc.2137G>Ap.Glu713Lys1418q12MissenseNo known pathogenicity56ToleratedBenignIntracellular cadherin segmentReported by Basso et al. as E712K. DSG2_00045

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Barahona-Dussault et al. Clinical Genetics 2010;77:37-48. Article details   MAF: 3.5%
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35. Article details 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation
Judge et al. Nature Clinical Practice Cardiovascular Medicine 2008;5(10):E2. Article details 20/200    
Milting et al. Nature Clinical Practice Cardiovascular Medicine 2008;5(10):E1. Article details 16/172    
Posch et al. Molecular Genetics and Metabolism 2008;95:74-80. Article details 25/360    
Yu et al. Journal of the Formosan Medical Association 2008;107:548-58. Article details 0/200 TFC+0 
Basso et al. European Heart Journal 2006;27:1847-54. Article details 0/200 TFC+  
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SNP reports

No SNP reports found.