Details of mutation PKP2:D26N

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
PKP2D26Nc.76G>A p.Asp26Asn112p11MissenseNo known pathogenicity23ToleratedPossibly damagingN-terminus  PKP2_00001

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Cerrone et al. Circulation 2014;129:1092-103. Article details 0/0 BS Brugada syndrome, found in 7 probands and in healthy controls.
Pugh et al. Genetics in Medicine 2014:Epub ahead of print. Article details 0/0 DCM, age 28 Also carries A29528T, P9631L, P18487, I2716fsX2724 in TTN, c.1574+14G>T in DSP.
Zhang et al. Circulation Journal 2012;6:189-94. Article details 0/192 N=20One patient carried PKP2 R651X mutation
Cox et al. Circulation 2011;123:2690-2700. Article details 0/0 TFC+, N=2 See van Tintelen et al.
Christensen et al. Journal of Medical Genetics 2010;47:736-44. Article details 0/0    
Fressart et al. Europace 2010;12:861-8. Article details 2/600 TFC+ Classified as polymorphism
Klauke et al. Human Molecular Genetics 2010;19:4595-607. Article details 10/726   Considered 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.
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UNPUBLISHED.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UNPUBLISHED.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.