Details of mutation PKP2:D26N

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
PKP2D26Nc.76G>A p.Asp26Asn112p11MissenseUnknown/UV23ToleratedPossibly damagingN-terminus  PKP2_00001

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Fressart et al. Europace 2010;12:861-8. Article details 2/600 TFC+ Classified as polymorphism
La Gerche et al. Heart 2010;96:1268-74. Article details 0/0 Athlete with RV arrhythmias  
Bhuiyan et al. Circulation Cardiovascular Genetics 2009;2:418-27. Article details 0/0 TFC+ See van Tintelen et al.
Christensen et al. Cardiology 2009;115:148-54. Article details 9/1300   Found in 3 patients (p=0.05); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role.
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
Krahn et al. Circulation 2009;120:278-85. Article details 0/0 ARVC, cardiac arrest survivor  
Koopmann et al. Heart Rhythm 2007;4:752-5. Article details 1/76 BS 38 Brugada syndrome probands were studied, i.e. not healthy controls.
van Tintelen et al. Circulation 2006;113:1650-8. Article details 0/300 TFC+0 
UNPUBLISHED. Contact curators for more information . Article details 5/210   Personal communication from A. Rampazzo
UNPUBLISHED. Contact curators for more information . Article details 0/0 Found in 2/100 Caucasian probands, did not segregate with the disease in one family. Personal communication from B. Funke
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SNP reports

No SNP reports found.