MYL2 protein-altering variants in ExAC

MYL2 gene summary
MYL2 variants in HCM, DCM

The table below lists the MYL2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 111356937 c.64G>A p.E22K missense 0.00000827●●●●●●
2. 111352091 c.173G>A p.R58Q missense 0.00000828●●●●●●
3. 111351093 c.310A>G p.K104E missense 0.00000824●●●●●●
4. 111348923 c.459G>C p.K153N missense 0.00002472●●●●●●
5. 111350922 c.380C>T p.A127V missense 0.00002471●●●●●●
6. 111350943 c.359G>A p.R120Q missense 0.00005766●●●●●●
7. 111348949 c.433G>A p.D145N missense 0.00000825●●●●●●
8. 111348946 c.436G>A p.V146M missense 0.00004123●●●●●●
9. 111350928 c.374C>T p.T125M missense 0.00004118●●●●●●
10. 111350936 c.366G>T p.M122I missense 0.00000824●●●●●●
11. 111351099 c.304G>A p.A102T missense 0.00001647●●●●●●
12. 111352035 c.229A>G p.I77V missense 0.00000824●●●●●●
13. 111351105 c.298C>G p.L100V missense 0.00004118●●●●●●
14. 111348907 c.475A>G p.I159V missense 0.00000824●●●●●●
15. 111348913 c.469C>T p.H157Y missense 0.00001648●●●●●●
16. 111348916 c.466G>T p.V156L missense 0.00001648●●●●●●
17. 111348928 c.454T>C p.Y152H missense 0.00001648●●●●●●
18. 111348945 c.437T>C p.V146A missense 0.00000825●●●●●●
19. 111348951 c.431C>G p.P144R missense 0.00001650●●●●●●
20. 111348952 c.430C>G p.P144A missense 0.00006601●●●●●●
21. 111348952 c.430C>A p.P144T missense 0.00000825●●●●●●
22. 111348954 c.428C>T p.P143L missense 0.00002475●●●●●●
23. 111348958 c.424T>G p.F142V missense 0.00000825●●●●●●
24. 111348969 c.413T>A p.M138K missense 0.00000826●●●●●●
25. 111348979 c.403G>T p.V135F missense 0.00001655●●●●●●
26. 111350944 c.358C>G p.R120G missense 0.00000824●●●●●●
27. 111350947 c.355G>A p.V119I missense 0.00004118●●●●●●
28. 111351066 c.337G>T p.V113L missense 0.00000824●●●●●●
29. 111351082 c.321C>A p.D107E missense 0.00000824●●●●●●
30. 111351102 c.301A>G p.N101D missense 0.00000824●●●●●●
31. 111351125 c.278C>T p.A93V missense 0.00000824●●●●●●
32. 111352007 c.257T>C p.F86S missense 0.00000824●●●●●●
33. 111352008 c.256T>C p.F86L missense 0.00003295●●●●●●
34. 111352023 c.241G>A p.V81M missense 0.00001647●●●●●●
35. 111352061 c.203A>G p.E68G missense 0.00000824●●●●●●
36. 111353564 c.124G>T p.G42C missense 0.00000824●●●●●●
37. 111353591 c.97T>C p.F33L missense 0.00000824●●●●●●
38. 111356937 c.64G>C p.E22Q missense 0.00000827●●●●●●
39. 111356942 c.59T>A p.M20K missense 0.00000827●●●●●●
40. 111356943 c.58A>G p.M20V missense 0.00000827●●●●●●
41. 111356952 c.49G>A p.V17M missense 0.00001655●●●●●●
42. 111356967 c.34G>T p.G12C missense 0.00000830●●●●●●
43. 111356970 c.31G>A p.G11R missense 0.00001662●●●●●●
44. 111356970 c.31G>T p.G11W missense 0.00000831●●●●●●
45. 111356973 c.28G>A p.A10T missense 0.00000832●●●●●●
46. 111356994 c.7C>A p.P3T missense 0.00000853●●●●●●
47. 111352092 c.172C>T p.R58X nonsense 0.00000829●●●●●●
48. 111356937 c.64G>T p.E22X nonsense 0.00000827●●●●●●
49. 111348980 c.403-1G>C essential splice site 0.00002482●●●●●●
50. 111351130 c.275-2A>G essential splice site 0.00000824●●●●●●
51. 111352100 c.170-6_170-2dupCCCTA essential splice site 0.00000831●●●●●●
52. 111356909 c.92_93+1delAGG essential splice site 0.00000831●●●●●●
53. 111348951 c.431delC frameshift 0.00001650●●●●●●
54. 111356990 c.11_15delAGAAA p.K4Sfs*25 frameshift 0.00001679●●●●●●
55. 111351050 c.353_354insG p.Tyr118Ter frameshift 0.00000824●●●●●●
56. 111356954 c.47delA p.Asn16ThrfsTer34 frameshift 0.00000827●●●●●●

* 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.