PKP2 truncating variants in ExAC

PKP2 gene summary
PKP2 variants in DCM

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 frequency▼Populations*
1. 33031445 c.369G>A p.W123X nonsense 0.00000853●●●●●●
2. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824●●●●●●
3. 33031151 c.663C>A p.Y221X nonsense 0.00000824●●●●●●
4. 33031006 c.808C>T p.Q270X nonsense 0.00001652●●●●●●
5. 33030846 c.968_969delAG p.Gln323ArgfsTer12 frameshift 0.00004145●●●●●●
6. 33030843 c.971_972insCT p.Ala325TrpfsTer28 frameshift 0.00004148●●●●●●
7. 33021968 c.1063C>T p.R355X nonsense 0.00000824●●●●●●
8. 33003841 c.1237C>T p.R413X nonsense 0.00001647●●●●●●
9. 33003698 c.1378+2T>A essential splice site 0.00000826●●●●●●
10. 32996248 c.1379-1G>A essential splice site 0.00014985●●●●●●
11. 32996151 c.1475_1476insCT p.Arg493Ter frameshift 0.00002799●●●●●●
12. 32996137 c.1489C>T p.R497X nonsense 0.00003606●●●●●●
13. 32996122 c.1504C>T p.Q502X nonsense 0.00002854●●●●●●
14. 32994140 c.1511-1G>T essential splice site 0.00000830●●●●●●
15. 32994037 c.1613G>A p.W538X nonsense 0.00001648●●●●●●
16. 32977097 c.1689-1G>C essential splice site 0.00000826●●●●●●
17. 32975551 c.1821dupT frameshift 0.00000825●●●●●●
18. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824●●●●●●
19. 32975421 c.1951C>T p.R651X nonsense 0.00000824●●●●●●
20. 32974457 c.1978C>T p.Q660X nonsense 0.00000825●●●●●●
21. 32974361 c.2074A>T p.K692X nonsense 0.00000824●●●●●●
22. 32955491 c.2146-1G>C essential splice site 0.00004944●●●●●●
23. 32949042 c.2489+1G>A essential splice site 0.00002471●●●●●●
24. 32945376 c.2628C>A p.Y876X 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.