MAP2K2 missense variants in ExAC

MAP2K2 gene summary
MAP2K2 variants in

The table below lists the MAP2K2 missense 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. 4090637 c.1162C>T p.R388W missense 0.00124820●●●●●●
2. 4099225 c.893C>T p.P298L missense 0.00106887●●●●●●
3. 4101272 c.535C>T p.R179W missense 0.00029896●●●●●●
4. 4099274 c.844C>T p.P282S missense 0.00028590●●●●●●
5. 4123851 c.22G>A p.V8M missense 0.00018312●●●●●●
6. 4099265 c.853G>A p.D285N missense 0.00015746●●●●●●
7. 4094459 c.1084A>G p.M362V missense 0.00012848●●●●●●
8. 4099305 c.813C>G p.D271E missense 0.00012629●●●●●●
9. 4090601 c.1198G>A p.V400M missense 0.00010326●●●●●●
10. 4090612 c.1187C>T p.T396M missense 0.00010077●●●●●●
11. 4090636 c.1163G>A p.R388Q missense 0.00009626●●●●●●
12. 4099334 c.784G>A p.V262I missense 0.00009125●●●●●●
13. 4094473 c.1070G>A p.R357Q missense 0.00008234●●●●●●
14. 4123835 c.38C>T p.T13I missense 0.00008181●●●●●●
15. 4099229 c.889C>T p.R297W missense 0.00008081●●●●●●
16. 4099262 c.856G>A p.G286R missense 0.00007920●●●●●●
17. 4099271 c.847G>T p.V283L missense 0.00007827●●●●●●
18. 4099300 c.818A>G p.K273R missense 0.00007541●●●●●●
19. 4099217 c.901C>G p.P301A missense 0.00006743●●●●●●
20. 4097323 c.938G>A p.R313Q missense 0.00006667●●●●●●
21. 4101271 c.536G>A p.R179Q missense 0.00005398●●●●●●
22. 4099234 c.884C>T p.S295L missense 0.00005351●●●●●●
23. 4099271 c.847G>A p.V283M missense 0.00005218●●●●●●
24. 4095411 c.1021G>T p.D341Y missense 0.00004814●●●●●●
25. 4117439 c.281C>T p.S94L missense 0.00004176●●●●●●
26. 4097336 c.925G>A p.G309R missense 0.00004171●●●●●●
27. 4094479 c.1064C>T p.A355V missense 0.00004054●●●●●●
28. 4101031 c.691C>T p.R231C missense 0.00004051●●●●●●
29. 4099228 c.890G>A p.R297Q missense 0.00004046●●●●●●
30. 4094480 c.1063G>C p.A355P missense 0.00004030●●●●●●
31. 4123787 c.86C>A p.A29D missense 0.00004006●●●●●●
32. 4094488 c.1055A>G p.K352R missense 0.00003976●●●●●●
33. 4101033 c.689C>T p.T230M missense 0.00003964●●●●●●
34. 4099277 c.841C>T p.R281W missense 0.00003905●●●●●●
35. 4099304 c.814G>A p.A272T missense 0.00003810●●●●●●
36. 4123790 c.83G>A p.G28D missense 0.00003802●●●●●●
37. 4099307 c.811G>A p.D271N missense 0.00003781●●●●●●
38. 4099312 c.806C>T p.P269L missense 0.00003726●●●●●●
39. 4099331 c.787G>A p.G263R missense 0.00003468●●●●●●
40. 4117482 c.238G>A p.A80T missense 0.00003312●●●●●●
41. 4102445 c.457G>A p.G153S missense 0.00003256●●●●●●
42. 4099360 c.758T>C p.M253T missense 0.00003244●●●●●●
43. 4102411 c.491G>T p.R164M missense 0.00003188●●●●●●
44. 4102414 c.488A>G p.K163R missense 0.00003153●●●●●●
45. 4123809 c.64C>A p.P22T missense 0.00003042●●●●●●
46. 4123842 c.31G>C p.A11P missense 0.00002833●●●●●●
47. 4123847 c.26T>C p.L9P missense 0.00002819●●●●●●
48. 4101118 c.604G>A p.V202M missense 0.00002784●●●●●●
49. 4123821 c.52A>G p.I18V missense 0.00002758●●●●●●
50. 4101278 c.529G>A p.V177I missense 0.00002753●●●●●●
51. 4101124 c.598A>G p.I200V missense 0.00002728●●●●●●
52. 4123824 c.49A>C p.T17P missense 0.00002714●●●●●●
53. 4099246 c.872C>G p.P291R missense 0.00002627●●●●●●
54. 4117446 c.274A>G p.R92G missense 0.00002499●●●●●●
55. 4101253 c.554G>A p.R185Q missense 0.00002466●●●●●●
56. 4101243 c.564C>G p.H188Q missense 0.00002330●●●●●●
57. 4099375 c.743C>T p.S248L missense 0.00002232●●●●●●
58. 4102375 c.527C>T p.A176V missense 0.00002135●●●●●●
59. 4102450 c.452A>G p.D151G missense 0.00001707●●●●●●
60. 4117429 c.291C>G p.I97M missense 0.00001679●●●●●●
61. 4097288 c.973A>C p.I325L missense 0.00001670●●●●●●
62. 4097333 c.928A>G p.M310V missense 0.00001668●●●●●●
63. 4097324 c.937C>T p.R313W missense 0.00001667●●●●●●
64. 4110631 c.326C>T p.P109L missense 0.00001665●●●●●●
65. 4117473 c.247G>A p.G83S missense 0.00001658●●●●●●
66. 4117481 c.239C>T p.A80V missense 0.00001656●●●●●●
67. 4110554 c.403G>A p.G135R missense 0.00001654●●●●●●
68. 4117513 c.207C>A p.D69E missense 0.00001653●●●●●●
69. 4117563 c.157C>T p.R53W missense 0.00001651●●●●●●
70. 4101072 c.650G>T p.G217V missense 0.00001646●●●●●●
71. 4101073 c.649G>T p.G217C missense 0.00001629●●●●●●
72. 4102417 c.485C>T p.A162V missense 0.00001585●●●●●●
73. 4101082 c.640G>A p.G214R missense 0.00001572●●●●●●
74. 4101111 c.611C>G p.S204C missense 0.00001420●●●●●●
75. 4101114 c.608A>G p.N203S missense 0.00001404●●●●●●
76. 4101139 c.583G>A p.V195M missense 0.00001396●●●●●●
77. 4101129 c.593C>T p.S198F missense 0.00001366●●●●●●
78. 4101129 c.593C>G p.S198C missense 0.00001366●●●●●●
79. 4099205 c.913G>A p.V305I missense 0.00001362●●●●●●
80. 4099211 c.907C>T p.R303C missense 0.00001359●●●●●●
81. 4099262 c.856G>C p.G286R missense 0.00001320●●●●●●
82. 4099244 c.874C>T p.H292Y missense 0.00001315●●●●●●
83. 4099259 c.859G>C p.E287Q missense 0.00001313●●●●●●
84. 4099273 c.845C>A p.P282H missense 0.00001298●●●●●●
85. 4099280 c.838G>A p.G280S missense 0.00001281●●●●●●
86. 4099301 c.817A>G p.K273E missense 0.00001257●●●●●●
87. 4099312 c.806C>G p.P269R missense 0.00001242●●●●●●
88. 4099333 c.785T>G p.V262G missense 0.00001141●●●●●●
89. 4099334 c.784G>T p.V262F missense 0.00001141●●●●●●
90. 4117431 c.289A>T p.I97F missense 0.00000839●●●●●●
91. 4097290 c.971A>G p.Y324C missense 0.00000835●●●●●●
92. 4097336 c.925G>T p.G309W missense 0.00000834●●●●●●
93. 4097331 c.930G>A p.M310I missense 0.00000834●●●●●●
94. 4097292 c.969C>G p.D323E missense 0.00000834●●●●●●
95. 4097321 c.940C>A p.P314T missense 0.00000833●●●●●●
96. 4110628 c.329C>T p.A110V missense 0.00000832●●●●●●
97. 4110507 c.450G>A p.M150I missense 0.00000830●●●●●●
98. 4110605 c.352G>A p.E118K missense 0.00000829●●●●●●
99. 4110608 c.349C>T p.R117C missense 0.00000829●●●●●●
100. 4110511 c.446A>T p.H149L missense 0.00000829●●●●●●
101. 4110520 c.437G>T p.C146F missense 0.00000829●●●●●●
102. 4110586 c.371A>G p.E124G missense 0.00000828●●●●●●
103. 4110559 c.398T>G p.F133C missense 0.00000827●●●●●●
104. 4117620 c.100C>G p.L34V missense 0.00000827●●●●●●
105. 4110574 c.383C>T p.P128L missense 0.00000827●●●●●●
106. 4117503 c.217G>A p.E73K missense 0.00000827●●●●●●
107. 4117503 c.217G>C p.E73Q missense 0.00000827●●●●●●
108. 4117527 c.193G>A p.G65S missense 0.00000826●●●●●●
109. 4117535 c.185C>A p.A62D missense 0.00000826●●●●●●
110. 4117566 c.154A>C p.K52Q missense 0.00000826●●●●●●

* 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.