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. 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. 32977097 c.1689-1G>C essential splice site 0.00000826●●●●●●
15. 33003698 c.1378+2T>A essential splice site 0.00000826●●●●●●
16. 32975551 c.1821dupT frameshift 0.00000825●●●●●●
17. 32974457 c.1978C>T p.Q660X nonsense 0.00000825●●●●●●
18. 33031151 c.663C>A p.Y221X nonsense 0.00000824●●●●●●
19. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824●●●●●●
20. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824●●●●●●
21. 32974361 c.2074A>T p.K692X nonsense 0.00000824●●●●●●
22. 32945376 c.2628C>A p.Y876X nonsense 0.00000824●●●●●●
23. 33021968 c.1063C>T p.R355X 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.