Details of mutation PKP2:R79X

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
PKP2R79Xc.235C>Tp.Arg79X212p11NonsensePathogenic   N-terminus  PKP2_00013

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Philips et al. Circ Arrhythm Electrophysiol. 2014;7:230-236. Article details 0/0   N=5
Bao et al. Circulation Cardiovascular Genetics 2013;6:552-6. Article details 0/600 TFC+  
Bhonsale et al. Circ Arrhythm Electrophysiol. 2013;6:569-578. Article details 0/0   Previously reported by Dalal et al.
James et al. J Am Coll Cardiol. 2013;62:1290-1297. Article details 0/0   Previously reported by Dalal et al.
Perrin et al. Journal of the Amercian College of Cardiology 2013;62:1772-79. Article details 0/0 Modified TFC-, age 21 asymptomatic carrier
te Riele et al. J Am Coll Cardiol. 2013;62:1761-1769. Article details 0/0   Previously reported by Dalal et al.
Te Riele et al. J Cardiovasc Electrophysiol. 2013;24:1311-1320. Article details 0/0   Previously reported by Dalal et al.
Larsen et al. Forensic Science International 2012;219:33-8. Article details 0/0 ARVC; SCD at age 19 Cardiac enlargement, interstitial fibrosis and fibrofatty infiltrations of the myocardium
Cox et al. Circulation 2011;123:2690-2700. Article details 0/0 TFC+, N=93See van Tintelen et al; See van der Zwaag et al; two patients also carried a variant in DSG2
Christensen et al. Journal of Medical Genetics 2010;47:736-44. Article details 0/0 TFC+ Patient also carries JUP S225L
Klauke et al. Human Molecular Genetics 2010;19:4595-607. Article details 0/640 TFC+  
Tan et al. Journal of Cardiovascular Translational Research 2010;3:663-73. Article details 0/0 TFC+ Previously reported by Dalal et al.
van der Zwaag et al. Netherlands Heart Journal 2010;18:583-91. Article details 0/0 12 ARVC families41Some families were previously published by van Tintelen et al. Founder mutation in the Netherlands
Bhuiyan et al. Circulation Cardiovascular Genetics 2009;2:418-27. Article details 0/0 TFC+ See van Tintelen et al.
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35. Article details 0/0 TFC+; 2 unrelated probands Previously reported by Dalal et al.
Joshi-Mukherjee et al. Heart Rhythm 2008;5:1715-23. Article details 0/0   Functional data: reduced connexin43 abundance, correlated with loss of HSP90 expression, no connexin43 and desmoplakin interaction
Dalal et al. Circulation 2006;113:1641-9. Article details 0/0 TFC+  
van Tintelen et al. Circulation 2006;113:1650-8. Article details 0/0 TFC+11Patients from five different families
Gerull et al. Nature Genetics 2004;36:1162-4. Article details 0/500 TFC+  
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SNP reports

No SNP reports found.