Details of mutation PKP2:V587I

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
PKP2V587Ic.1759G>Ap.Val587Ile812p11MissensePathogenic29ToleratedBenignArmadillo 4  PKP2_00068

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Barahona-Dussault et al. Clinical Genetics 2010;77:37-48. Article details   MAF: 0.8%
Fressart et al. Europace 2010;12:861-8. Article details 3/600 TFC+ Classified as polymorphism
Xu et al. Journal of the American College of Cardiology 2010;55:587-97. Article details 0/0 TFC+ See Basso et al.
Christensen et al. Cardiology 2009;115:148-54. Article details 3/1300   Found in 1 of 53 patients (p=0.27); 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 TFC+ Compound heterozygote: PKP2 c.2145+1G>C
Rampazzo et al. European Heart Journal 2008;29:Suppl; 737. Article details 0/0   See Basso et al. Reported as "possibly pathogenic mutation"
Albuisson et al. European Heart Journal 2007;28:Suppl; 543. Article details 0/400 Brugada syndrome2No familial segreation with Brugada syndrome
Basso et al. European Heart Journal 2006;27:1847-54. Article details 0/200 TFC+  
Please login to comment on this mutation.

SNP reports

No SNP reports found.