Details of mutation PKP2:V587I

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
PKP2V587Ic.1759G>Ap.Val587Ile812p11MissenseUnknown/UV29ToleratedBenignArmadillo 4  PKP2_00068

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   Previously reported by den Haan et al.
Pugh et al. Genetics in Medicine 2014:Epub ahead of print. Article details 0/0 DCM N=2 1 patient also carries DES p.Leu136His, LAMP2 p.Thr196Ser, MYH7 c.1139-14C>T, MYOZ2 c.77-14A>G, FHL2 p.Val29Met, TTN p.Thr3713Ser p.Asp29049Glu. 1 patient also carries TTN p.Met31575Thr.
Baskin et al. Human Genetics 2013;132:1245-1252. Article details 0/0 TFC+, N=1  
Bhonsale et al. Circ Arrhythm Electrophysiol. 2013;6:569-578. Article details 0/0   Previously reported by den Haan et al.
te Riele et al. J Am Coll Cardiol. 2013;62:1761-1769. Article details 0/0   Previously reported by den Haan et al.
Te Riele et al. J Cardiovasc Electrophysiol. 2013;24:1311-1320. Article details 0/0   Previously reported by den Haan et al.
Garcia-Pavia et al. Heart 2011;97:1744-52. Article details 0/400 DCM HTx; N=3 One patient also carried DSC2 V303M variant
Kapplinger et al. Jornal of the American College of Cardiology 2011;57:2317-27. Article details 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP S2843_R2846del variant
Quarta et al. Circulation 2011;123:2701-9. Article details 0/0 TFC+  
Barahona-Dussault et al. Clinical Genetics 2010;77:37-48. Article details   MAF: 0.8%
Christensen et al. Journal of Medical Genetics 2010;47:736-44. 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.
Fressart et al. Europace 2010;12:861-8. Article details 3/600 TFC+ Classified as polymorphism
Tan et al. Journal of Cardiovascular Translational Research 2010;3:663-73. Article details 0/0 TFC+ Previously reported by den Haan et al.
Xu et al. Journal of the American College of Cardiology 2010;55:587-97. Article details 0/0 TFC+ See Basso et al.
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+  
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SNP reports

No SNP reports found.