Details of mutation DSG2:V56M

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSG2V56Mc.166G>Ap.Val56Met318q12MissenseUnknown/UV21Affect protein functionBenignCadherin 1  DSG2_00008

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Perrin et al. Journal of the Amercian College of Cardiology 2013;62:1772-79. Article details 0/0 Modified TFC-, age 59 asymptomatic
Quarta et al. Circulation 2011;123:2701-9. Article details 0/0 TFC+ See Syrris et al.
Christensen et al. Journal of Medical Genetics 2010;47:736-44. Article details 4/1300 TFC+ Found in 1 patient (p=0.38)
Elliott et al. Circulation Cardiovascular Genetics 2010;3:314-22. Article details 1/200 DCM  
Tan et al. Journal of Cardiovascular Translational Research 2010;3:663-73. Article details 0/0 TFC+ Previously reported by Dalal et al.
Xu et al. Journal of the American College of Cardiology 2010;55:587-97. Article details 0/0   See Dalal et al.
Bhuiyan et al. Circulation Cardiovascular Genetics 2009;2:418-27. Article details 0/300 TFC- (1 major OR 2 minor)  
Dalal et al. Journal of the American College of Cardiology 2009;53:1289-99. Article details 0/400 TFC+1Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35. Article details 0/0 TFC+ Share conclusion that V56M likely plays a contributory role. See Dalal et al.
Posch et al. Molecular Genetics and Metabolism 2008;95:74-80. Article details 3/617 fDCM113 unrelated DCM subjects were identified; susceptibility variation?
Posch et al. Nature Clinical Practice Cardiovascular Medicine 2008;5(12):E1. Article details    
Syrris et al. European Heart Journal 2007;28:581-8. Article details 0/400 TFC+0 
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SNP reports

No SNP reports found.