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