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