MYOZ2 protein-altering variants in ExAC


The table below lists the MYOZ2 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 frequencyPopulations*
1. 120072096 c.146A>G p.H49R missense 0.00004120
2. 120079232 c.302C>T p.S101L missense 0.00004944
3. 120085392 c.403C>T p.P135S missense 0.00000825
4. 120085428 c.439T>C p.Y147H missense 0.00000825
5. 120085453 c.464C>T p.A155V missense 0.00000824
6. 120085512 c.523G>A p.G175R missense 0.00004959
7. 120072041 c.91G>C p.D31H missense 0.00000825
8. 120085436 c.447A>T p.Q149H missense 0.00001649
9. 120085468 c.479C>T p.P160L missense 0.00008245
10. 120107234 c.674C>T p.P225L missense 0.00004943
11. 120057691 c.11A>T p.H4L missense 0.00001697
12. 120107143 c.583T>A p.F195I missense 0.00004141
13. 120072131 c.181C>T p.R61C missense 0.00001648
14. 120072083 c.133G>A p.E45K missense 0.00000824
15. 120072171 c.221A>G p.Q74R missense 0.00001649
16. 120057681 c.1A>C p.Met1? missense 0.00000854
17. 120057682 c.2T>C p.Met1? missense 0.00000854
18. 120057697 c.17C>G p.T6S missense 0.00001693
19. 120057699 c.19A>G p.M7V missense 0.00000845
20. 120057719 c.39G>T p.Q13H missense 0.00000845
21. 120057733 c.53T>C p.I18T missense 0.00000849
22. 120057733 c.53T>G p.I18S missense 0.00000849
23. 120072056 c.106G>C p.V36L missense 0.00000824
24. 120072107 c.157C>T p.R53C missense 0.00000824
25. 120072107 c.157C>G p.R53G missense 0.00000824
26. 120072108 c.158G>A p.R53H missense 0.00001648
27. 120072131 c.181C>G p.R61G missense 0.00000824
28. 120072132 c.182G>A p.R61H missense 0.00001648
29. 120072134 c.184C>A p.Q62K missense 0.00000824
30. 120072148 c.198C>A p.D66E missense 0.00000824
31. 120072172 c.222G>T p.Q74H missense 0.00001649
32. 120072177 c.227A>G p.Q76R missense 0.00000825
33. 120072195 c.245A>G p.N82S missense 0.00000825
34. 120079185 c.255T>G p.I85M missense 0.00001648
35. 120079186 c.256G>A p.A86T missense 0.00000824
36. 120079193 c.263A>G p.Q88R missense 0.00000824
37. 120079201 c.271A>G p.K91E missense 0.00000824
38. 120079205 c.275T>C p.V92A missense 0.00000824
39. 120079207 c.277G>A p.D93N missense 0.00000824
40. 120079222 c.292G>C p.E98Q missense 0.00000824
41. 120079240 c.310G>A p.A104T missense 0.00000824
42. 120079241 c.311C>T p.A104V missense 0.00009063
43. 120079243 c.313C>T p.P105S missense 0.00006592
44. 120079274 c.344G>A p.R115Q missense 0.00000824
45. 120079293 c.363C>A p.D121E missense 0.00000824
46. 120085375 c.386G>A p.G129E missense 0.00000826
47. 120085381 c.392T>A p.L131Q missense 0.00000825
48. 120085391 c.402T>G p.I134M missense 0.00000825
49. 120085392 c.403C>A p.P135T missense 0.00001650
50. 120085408 c.419A>G p.N140S missense 0.00000825
51. 120085411 c.422C>A p.T141N missense 0.00000825
52. 120085411 c.422C>T p.T141I missense 0.00001649
53. 120085417 c.428C>T p.A143V missense 0.00000825
54. 120085479 c.490G>A p.E164K missense 0.00000825
55. 120085498 c.509T>A p.L170H missense 0.00000826
56. 120085516 c.527A>C p.K176T missense 0.00000827
57. 120085533 c.544T>C p.Y182H missense 0.00001659
58. 120107126 c.566C>T p.A189V missense 0.00000832
59. 120107143 c.583T>C p.F195L missense 0.00000828
60. 120107155 c.595T>A p.S199T missense 0.00000826
61. 120107189 c.629A>G p.E210G missense 0.00000824
62. 120107209 c.649C>A p.P217T missense 0.00001648
63. 120107249 c.689G>A p.R230Q missense 0.00003296
64. 120107264 c.704C>A p.T235N missense 0.00000824
65. 120107266 c.706C>T p.P236S missense 0.00003295
66. 120107270 c.710A>G p.K237R missense 0.00000824
67. 120107296 c.736A>G p.I246V missense 0.00000825
68. 120107305 c.745A>G p.T249A missense 0.00000825
69. 120107308 c.748A>C p.T250P missense 0.00002475
70. 120107309 c.749C>T p.T250I missense 0.00000825
71. 120107311 c.751G>A p.E251K missense 0.00000826
72. 120107313 c.753A>C p.E251D missense 0.00000826
73. 120107333 c.773T>A p.V258E missense 0.00000828
74. 120079232 c.302C>A p.S101X nonsense 0.00001648
75. 120079273 c.343C>T p.R115X nonsense 0.00004944
76. 120072197 c.246+1G>A essential splice site 0.00000825
77. 120085550 c.560+1G>T essential splice site 0.00000833
78. 120085484 c.495delT p.Leu166TyrfsTer49 frameshift 0.00000825
79. 120085488 c.499_500insA p.Tyr167Ter frameshift 0.00000825

* 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.