ACE truncating variants in ExAC

ACE gene summary
ACE variants in

The table below lists the ACE 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. 61574174 c.3519delG p.Gly1174AlafsTer12 frameshift 0.00053254●●●●●●
2. 61560855 c.1522C>T p.R508X nonsense 0.00003296●●●●●●
3. 61555454 c.412C>T p.Q138X nonsense 0.00002734●●●●●●
4. 61560535 c.1487+1G>A essential splice site 0.00002480●●●●●●
5. 61564358 c.2229delC p.Leu744CysfsTer27 frameshift 0.00002480●●●●●●
6. 61573761 c.3387_3388insCA p.Val1130GlnfsTer43 frameshift 0.00002474●●●●●●
7. 61557840 c.798C>G p.Y266X nonsense 0.00002472●●●●●●
8. 61560832 c.1499_1500delAG p.Gln500ArgfsTer14 frameshift 0.00002472●●●●●●
9. 61566074 c.2371C>T p.R791X nonsense 0.00002471●●●●●●
10. 61573878 c.3503+1G>A essential splice site 0.00001659●●●●●●
11. 61560533 c.1486C>T p.R496X nonsense 0.00001652●●●●●●
12. 61559936 c.1228_1229insG p.Ala412GlyfsTer7 frameshift 0.00001650●●●●●●
13. 61557835 c.793C>T p.R265X nonsense 0.00001648●●●●●●
14. 61555388 c.346C>T p.Q116X nonsense 0.00001330●●●●●●
15. 61561903 c.1921+1G>A essential splice site 0.00001090●●●●●●
16. 61561690 c.1710-1G>A essential splice site 0.00001073●●●●●●
17. 61561864 c.1883G>A p.W628X nonsense 0.00001067●●●●●●
18. 61557274 c.655+1G>A essential splice site 0.00001061●●●●●●
19. 61561723 c.1742G>A p.W581X nonsense 0.00000954●●●●●●
20. 61561827 c.1846C>T p.Q616X nonsense 0.00000947●●●●●●
21. 61556366 c.418-2A>C essential splice site 0.00000925●●●●●●
22. 61561808 c.1827G>A p.W609X nonsense 0.00000923●●●●●●
23. 61574304 c.3649G>T p.E1217X nonsense 0.00000896●●●●●●
24. 61562596 c.1922-1G>A essential splice site 0.00000830●●●●●●
25. 61558547 c.943C>T p.Q315X nonsense 0.00000830●●●●●●
26. 61559100 c.1118+1G>A essential splice site 0.00000829●●●●●●
27. 61557156 c.538C>T p.R180X nonsense 0.00000829●●●●●●
28. 61557185 c.567G>A p.W189X nonsense 0.00000829●●●●●●
29. 61558457 c.853_854delAT p.Met285ValfsTer106 frameshift 0.00000827●●●●●●
30. 61571428 c.3281+1G>T essential splice site 0.00000826●●●●●●
31. 61568687 c.2857_2858insG p.Glu954GlyfsTer63 frameshift 0.00000825●●●●●●
32. 61559894 c.1186C>T p.Q396X nonsense 0.00000825●●●●●●
33. 61557732 c.690G>A p.W230X nonsense 0.00000825●●●●●●
34. 61560435 c.1388delC p.Phe464SerfsTer61 frameshift 0.00000824●●●●●●
35. 61568314 c.2642-1G>A essential splice site 0.00000824●●●●●●
36. 61566064 c.2361G>A p.W787X nonsense 0.00000824●●●●●●
37. 61557890 c.847+1G>A essential splice site 0.00000824●●●●●●
38. 61568349 c.2676T>G p.Y892X nonsense 0.00000824●●●●●●
39. 61560388 c.1343-2A>G essential splice site 0.00000824●●●●●●
40. 61560468 c.1421G>A p.W474X nonsense 0.00000824●●●●●●
41. 61566008 c.2306-1G>C essential splice site 0.00000824●●●●●●
42. 61571361 c.3215G>A p.W1072X 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.