Details of mutation PKP2:S140F

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
PKP2S140Fc.419C>Tp.Ser140Phe312p11MissensePathogenic155ToleratedBenignN-terminus  PKP2_00018

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Groeneweg et al. Heart Rhythm 2013;10:548-59. Article details 0/0 6 TFC+13In this family, there was no evidence of disease-causing contribution of the PKP2 S140F variant. The PLN R14del mutation cosegregates with arrhythmogenic cardiomyopathy and with electrocardiographic and structural LV abnormalities.
Garcia-Pavia et al. Heart 2011;97:1744-52. Article details 0/400 DCM HTx  
Quarta et al. Circulation 2011;123:2701-9. Article details 0/0 TFC+, N=23Not present in proband's daughter (36y) with NSVT and VES on Holter
Christensen et al. Journal of Medical Genetics 2010;47:736-44. Article details 5/1300   Found in 3 patients (p=0.02); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role.
Elliott et al. Circulation Cardiovascular Genetics 2010;3:314-22. Article details 0/200 DCM, N=3  
Fressart et al. Europace 2010;12:861-8. Article details 0/600 TFC+ homozygous; classified as genetic variant of unknown significance
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   Previously reported by Dalal et al.
Dalal et al. Journal of the American College of Cardiology 2009;53:1289-99. Article details 0/0 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+ Previously reported by Dalal et al.
Rampazzo et al. European Heart Journal 2008;29:Suppl; 737. Article details 0/0 TFC+  
Sen-Chowdhry et al. Journal of the American College of Cardiology 2008;52:2175-87. Article details 0/0 LDAC0Proposed criteria for incorporation in new TFC
Wlodarska et al. European Heart Journal 2008;29:Suppl; 163. Article details 0/200 TFC+  
Koopmann et al. Heart Rhythm 2007;4:752-5. Article details 1/76 BS reported as polymorphism; 38 Brugada syndrome probands were studied, i.e. not healthy controls.
Tsatsopoulou et al. European Heart Journal 2007;28:Suppl; 382. Article details 0/0   See Syrris et al. Compound heterozygote: PKP2 c.2146-1G>C
Dalal et al. Circulation 2006;113:1641-9. Article details 0/0 TFC+  
Syrris et al. Circulation 2006;113:356-64. Article details 0/400 TFC+3 
Gerull et al. Nature Genetics 2004;36:1162-4. Article details 0/500 TFC+  
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SNP reports

No SNP reports found.