PKP2 truncating variants in ExAC


The table below lists the PKP2 truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 32996248 c.1379-1G>A essential splice site 0.00014985
2. 32955491 c.2146-1G>C essential splice site 0.00004944
3. 33030843 c.971_972insCT p.Ala325TrpfsTer28 frameshift 0.00004148
4. 33030846 c.968_969delAG p.Gln323ArgfsTer12 frameshift 0.00004145
5. 32996137 c.1489C>T p.R497X nonsense 0.00003606
6. 32996122 c.1504C>T p.Q502X nonsense 0.00002854
7. 32996151 c.1475_1476insCT p.Arg493Ter frameshift 0.00002799
8. 32949042 c.2489+1G>A essential splice site 0.00002471
9. 33031006 c.808C>T p.Q270X nonsense 0.00001652
10. 32994037 c.1613G>A p.W538X nonsense 0.00001648
11. 33003841 c.1237C>T p.R413X nonsense 0.00001647
12. 33031445 c.369G>A p.W123X nonsense 0.00000853
13. 32994140 c.1511-1G>T essential splice site 0.00000830
14. 33003698 c.1378+2T>A essential splice site 0.00000826
15. 32977097 c.1689-1G>C essential splice site 0.00000826
16. 32974457 c.1978C>T p.Q660X nonsense 0.00000825
17. 32975551 c.1821dupT frameshift 0.00000825
18. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824
19. 33021968 c.1063C>T p.R355X nonsense 0.00000824
20. 33031151 c.663C>A p.Y221X nonsense 0.00000824
21. 32945376 c.2628C>A p.Y876X nonsense 0.00000824
22. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824
23. 32974361 c.2074A>T p.K692X nonsense 0.00000824
24. 32975421 c.1951C>T p.R651X nonsense 0.00000824

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.