MAP2K2 variants in ExAC

MAP2K2 gene summary
MAP2K2 variants in

The table below lists the MAP2K2 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. 4102449 c.453C>T p.D151D splice site 0.23147149●●●●●●
2. 4101221 c.580+6G>A splice site 0.00220264●●●●●●
3. 4101006 c.705+11G>C splice site 0.00169916●●●●●●
4. 4090637 c.1162C>T p.R388W missense 0.00124820●●●●●●
5. 4099225 c.893C>T p.P298L missense 0.00106887●●●●●●
6. 4117406 c.303+11C>T splice site 0.00071658●●●●●●
7. 4090712 c.1093-6T>C splice site 0.00042353●●●●●●
8. 4101272 c.535C>T p.R179W missense 0.00029896●●●●●●
9. 4099274 c.844C>T p.P282S missense 0.00028590●●●●●●
10. 4117409 c.303+8C>G splice site 0.00020694●●●●●●
11. 4101151 c.581-10C>T splice site 0.00019269●●●●●●
12. 4123851 c.22G>A p.V8M missense 0.00018312●●●●●●
13. 4099265 c.853G>A p.D285N missense 0.00015746●●●●●●
14. 4094459 c.1084A>G p.M362V missense 0.00012848●●●●●●
15. 4099305 c.813C>G p.D271E missense 0.00012629●●●●●●
16. 4090601 c.1198G>A p.V400M missense 0.00010326●●●●●●
17. 4090612 c.1187C>T p.T396M missense 0.00010077●●●●●●
18. 4090636 c.1163G>A p.R388Q missense 0.00009626●●●●●●
19. 4099334 c.784G>A p.V262I missense 0.00009125●●●●●●
20. 4102458 c.451-7C>T splice site 0.00008936●●●●●●
21. 4094473 c.1070G>A p.R357Q missense 0.00008234●●●●●●
22. 4123835 c.38C>T p.T13I missense 0.00008181●●●●●●
23. 4099188 c.919+11A>T splice site 0.00008175●●●●●●
24. 4099229 c.889C>T p.R297W missense 0.00008081●●●●●●
25. 4099262 c.856G>A p.G286R missense 0.00007920●●●●●●
26. 4099255 c.863_865delAAG p.Glu288del inframe 0.00007893●●●●●●
27. 4099271 c.847G>T p.V283L missense 0.00007827●●●●●●
28. 4099300 c.818A>G p.K273R missense 0.00007541●●●●●●
29. 4101149 c.581-8G>A splice site 0.00007367●●●●●●
30. 4099217 c.901C>G p.P301A missense 0.00006743●●●●●●
31. 4097323 c.938G>A p.R313Q missense 0.00006667●●●●●●
32. 4101288 c.529-10T>C splice site 0.00005949●●●●●●
33. 4101271 c.536G>A p.R179Q missense 0.00005398●●●●●●
34. 4102457 c.451-6C>G splice site 0.00005355●●●●●●
35. 4099234 c.884C>T p.S295L missense 0.00005351●●●●●●
36. 4099271 c.847G>A p.V283M missense 0.00005218●●●●●●
37. 4099410 c.708G>A splice site 0.00004834●●●●●●
38. 4095411 c.1021G>T p.D341Y missense 0.00004814●●●●●●
39. 4095454 c.985-7_985-5delTCC splice site 0.00004804●●●●●●
40. 4094451 c.1092A>G splice site 0.00004391●●●●●●
41. 4101144 c.581-3C>T splice site 0.00004275●●●●●●
42. 4117439 c.281C>T p.S94L missense 0.00004176●●●●●●
43. 4097336 c.925G>A p.G309R missense 0.00004171●●●●●●
44. 4099195 c.919+4C>T splice site 0.00004129●●●●●●
45. 4099200 c.918C>T splice site 0.00004098●●●●●●
46. 4094479 c.1064C>T p.A355V missense 0.00004054●●●●●●
47. 4101031 c.691C>T p.R231C missense 0.00004051●●●●●●
48. 4099228 c.890G>A p.R297Q missense 0.00004046●●●●●●
49. 4094480 c.1063G>C p.A355P missense 0.00004030●●●●●●
50. 4123787 c.86C>A p.A29D missense 0.00004006●●●●●●
51. 4094502 c.1047-6C>T splice site 0.00004005●●●●●●
52. 4094488 c.1055A>G p.K352R missense 0.00003976●●●●●●
53. 4101033 c.689C>T p.T230M missense 0.00003964●●●●●●
54. 4099277 c.841C>T p.R281W missense 0.00003905●●●●●●
55. 4099304 c.814G>A p.A272T missense 0.00003810●●●●●●
56. 4123790 c.83G>A p.G28D missense 0.00003802●●●●●●
57. 4099307 c.811G>A p.D271N missense 0.00003781●●●●●●
58. 4099312 c.806C>T p.P269L missense 0.00003726●●●●●●
59. 4099331 c.787G>A p.G263R missense 0.00003468●●●●●●
60. 4117633 c.93-6C>T splice site 0.00003313●●●●●●
61. 4117482 c.238G>A p.A80T missense 0.00003312●●●●●●
62. 4102445 c.457G>A p.G153S missense 0.00003256●●●●●●
63. 4099360 c.758T>C p.M253T missense 0.00003244●●●●●●
64. 4102411 c.491G>T p.R164M missense 0.00003188●●●●●●
65. 4102414 c.488A>G p.K163R missense 0.00003153●●●●●●
66. 4123809 c.64C>A p.P22T missense 0.00003042●●●●●●
67. 4101283 c.529-5T>C splice site 0.00002865●●●●●●
68. 4101146 c.581-5T>C splice site 0.00002855●●●●●●
69. 4123842 c.31G>C p.A11P missense 0.00002833●●●●●●
70. 4123847 c.26T>C p.L9P missense 0.00002819●●●●●●
71. 4101118 c.604G>A p.V202M missense 0.00002784●●●●●●
72. 4123821 c.52A>G p.I18V missense 0.00002758●●●●●●
73. 4101278 c.529G>A p.V177I missense 0.00002753●●●●●●
74. 4101276 c.531T>C splice site 0.00002735●●●●●●
75. 4101124 c.598A>G p.I200V missense 0.00002728●●●●●●
76. 4123824 c.49A>C p.T17P missense 0.00002714●●●●●●
77. 4099219 c.899_907delCCCCCGGGC p.P300_R303delinsR inframe 0.00002713●●●●●●
78. 4099246 c.872C>G p.P291R missense 0.00002627●●●●●●
79. 4117446 c.274A>G p.R92G missense 0.00002499●●●●●●
80. 4110499 c.450+8C>T splice site 0.00002492●●●●●●
81. 4101253 c.554G>A p.R185Q missense 0.00002466●●●●●●
82. 4102367 c.528+7C>T splice site 0.00002401●●●●●●
83. 4102367 c.528+7C>G splice site 0.00002401●●●●●●
84. 4101243 c.564C>G p.H188Q missense 0.00002330●●●●●●
85. 4099375 c.743C>T p.S248L missense 0.00002232●●●●●●
86. 4102374 c.528G>A splice site 0.00002189●●●●●●
87. 4102375 c.527C>T p.A176V missense 0.00002135●●●●●●
88. 4099423 c.706-11C>T splice site 0.00001984●●●●●●
89. 4102450 c.452A>G p.D151G missense 0.00001707●●●●●●
90. 4117416 c.303+1G>A essential splice site 0.00001700●●●●●●
91. 4110660 c.304-7C>T splice site 0.00001687●●●●●●
92. 4117429 c.291C>G p.I97M missense 0.00001679●●●●●●
93. 4097288 c.973A>C p.I325L missense 0.00001670●●●●●●
94. 4097333 c.928A>G p.M310V missense 0.00001668●●●●●●
95. 4097324 c.937C>T p.R313W missense 0.00001667●●●●●●
96. 4110631 c.326C>T p.P109L missense 0.00001665●●●●●●
97. 4117473 c.247G>A p.G83S missense 0.00001658●●●●●●
98. 4117481 c.239C>T p.A80V missense 0.00001656●●●●●●
99. 4110554 c.403G>A p.G135R missense 0.00001654●●●●●●
100. 4117513 c.207C>A p.D69E missense 0.00001653●●●●●●
101. 4117563 c.157C>T p.R53W missense 0.00001651●●●●●●
102. 4101072 c.650G>T p.G217V missense 0.00001646●●●●●●
103. 4101073 c.649G>T p.G217C missense 0.00001629●●●●●●
104. 4099410 c.708G>T splice site 0.00001611●●●●●●
105. 4102417 c.485C>T p.A162V missense 0.00001585●●●●●●
106. 4101082 c.640G>A p.G214R missense 0.00001572●●●●●●
107. 4101111 c.611C>G p.S204C missense 0.00001420●●●●●●
108. 4101114 c.608A>G p.N203S missense 0.00001404●●●●●●
109. 4101139 c.583G>A p.V195M missense 0.00001396●●●●●●
110. 4099194 c.919+5G>A splice site 0.00001368●●●●●●
111. 4101129 c.593C>G p.S198C missense 0.00001366●●●●●●
112. 4101129 c.593C>T p.S198F missense 0.00001366●●●●●●
113. 4099205 c.913G>A p.V305I missense 0.00001362●●●●●●
114. 4099211 c.907C>T p.R303C missense 0.00001359●●●●●●
115. 4099262 c.856G>C p.G286R missense 0.00001320●●●●●●
116. 4099244 c.874C>T p.H292Y missense 0.00001315●●●●●●
117. 4099259 c.859G>C p.E287Q missense 0.00001313●●●●●●
118. 4099273 c.845C>A p.P282H missense 0.00001298●●●●●●
119. 4099280 c.838G>A p.G280S missense 0.00001281●●●●●●
120. 4099301 c.817A>G p.K273E missense 0.00001257●●●●●●
121. 4099312 c.806C>G p.P269R missense 0.00001242●●●●●●
122. 4099333 c.785T>G p.V262G missense 0.00001141●●●●●●
123. 4099334 c.784G>T p.V262F missense 0.00001141●●●●●●
124. 4117410 c.303+7A>G splice site 0.00000860●●●●●●
125. 4110658 c.304-5T>C splice site 0.00000841●●●●●●
126. 4117431 c.289A>T p.I97F missense 0.00000839●●●●●●
127. 4097270 c.984+7G>A splice site 0.00000839●●●●●●
128. 4097290 c.971A>G p.Y324C missense 0.00000835●●●●●●
129. 4097288 c.973_974delAT p.Ile325CysfsTer7 frameshift 0.00000835●●●●●●
130. 4097336 c.925G>T p.G309W missense 0.00000834●●●●●●
131. 4097331 c.930G>A p.M310I missense 0.00000834●●●●●●
132. 4097292 c.969C>G p.D323E missense 0.00000834●●●●●●
133. 4097321 c.940C>A p.P314T missense 0.00000833●●●●●●
134. 4110628 c.329C>T p.A110V missense 0.00000832●●●●●●
135. 4110501 c.450+6T>C splice site 0.00000830●●●●●●
136. 4110504 c.450+3G>A splice site 0.00000830●●●●●●
137. 4110507 c.450G>A p.M150I missense 0.00000830●●●●●●
138. 4110511 c.446A>T p.H149L missense 0.00000829●●●●●●
139. 4110520 c.437G>T p.C146F missense 0.00000829●●●●●●
140. 4110605 c.352G>A p.E118K missense 0.00000829●●●●●●
141. 4110608 c.349C>T p.R117C missense 0.00000829●●●●●●
142. 4110586 c.371A>G p.E124G missense 0.00000828●●●●●●
143. 4117631 c.93-4G>T splice site 0.00000828●●●●●●
144. 4117503 c.217G>C p.E73Q missense 0.00000827●●●●●●
145. 4117503 c.217G>A p.E73K missense 0.00000827●●●●●●
146. 4110559 c.398T>G p.F133C missense 0.00000827●●●●●●
147. 4117620 c.100C>G p.L34V missense 0.00000827●●●●●●
148. 4110574 c.383C>T p.P128L missense 0.00000827●●●●●●
149. 4117535 c.185C>A p.A62D missense 0.00000826●●●●●●
150. 4117566 c.154A>C p.K52Q missense 0.00000826●●●●●●
151. 4117527 c.193G>A p.G65S 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.