TRIM55 missense variants in ExAC


The table below lists the TRIM55 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 frequencyPopulations*
1. 67064654 c.1028A>G p.K343R missense 0.14103252
2. 67066396 c.1351C>T p.R451W missense 0.00191994
3. 67047301 c.418G>A p.E140K missense 0.00180381
4. 67047241 c.358G>T p.D120Y missense 0.00065108
5. 67066435 c.1390G>A p.E464K missense 0.00050261
6. 67066394 c.1349C>T p.T450I missense 0.00046968
7. 67061980 c.704G>A p.R235Q missense 0.00040366
8. 67086762 c.1581T>G p.S527R missense 0.00026585
9. 67066511 c.1466C>T p.A489V missense 0.00026424
10. 67061983 c.707C>T p.T236I missense 0.00025538
11. 67047352 c.469C>A p.Q157K missense 0.00024710
12. 67066367 c.1322T>G p.F441C missense 0.00019783
13. 67064719 c.1093G>A p.E365K missense 0.00019018
14. 67040600 c.230G>A p.R77H missense 0.00016485
15. 67040549 c.179C>T p.P60L missense 0.00014272
16. 67062681 c.965G>A p.R322H missense 0.00014008
17. 67047274 c.391C>T p.R131C missense 0.00014003
18. 67064800 c.1174C>A p.P392T missense 0.00013234
19. 67066544 c.1499C>T p.T500I missense 0.00011568
20. 67062012 c.736G>T p.A246S missense 0.00010709
21. 67061923 c.647A>G p.D216G missense 0.00009915
22. 67064788 c.1162C>G p.P388A missense 0.00007439
23. 67086718 c.1537G>T p.A513S missense 0.00007415
24. 67062015 c.739C>G p.L247V missense 0.00007414
25. 67047354 c.471G>C p.Q157H missense 0.00007413
26. 67064632 c.1006G>C p.E336Q missense 0.00006922
27. 67064686 c.1060G>A p.V354I missense 0.00005927
28. 67066516 c.1471G>A p.E491K missense 0.00005778
29. 67040626 c.256G>A p.V86I missense 0.00005767
30. 67062624 c.908G>C p.G303A missense 0.00005767
31. 67086721 c.1540C>T p.P514S missense 0.00005767
32. 67047376 c.493T>C p.F165L missense 0.00005766
33. 67064641 c.1015G>A p.G339R missense 0.00005607
34. 67062082 c.806T>G p.M269R missense 0.00004945
35. 67086731 c.1550A>G p.Q517R missense 0.00004944
36. 67062635 c.919A>G p.M307V missense 0.00004943
37. 67062692 c.976T>G p.F326V missense 0.00004121
38. 67062593 c.877A>G p.K293E missense 0.00004120
39. 67086719 c.1538C>T p.A513V missense 0.00004120
40. 67064644 c.1018G>A p.E340K missense 0.00003837
41. 67086793 c.1612T>G p.F538V missense 0.00003298
42. 67066355 c.1310C>T p.A437V missense 0.00003298
43. 67062637 c.921G>A p.M307I missense 0.00003296
44. 67047290 c.407G>C p.C136S missense 0.00003295
45. 67062624 c.908G>A p.G303D missense 0.00003295
46. 67039576 c.73A>G p.I25V missense 0.00003295
47. 67064678 c.1052G>T p.G351V missense 0.00002611
48. 67064825 c.1199C>T p.P400L missense 0.00002486
49. 67049376 c.554G>A p.R185Q missense 0.00002479
50. 67064752 c.1126G>T p.A376S missense 0.00002479
51. 67066518 c.1473G>T p.E491D missense 0.00002476
52. 67062582 c.866C>T p.S289L missense 0.00002474
53. 67062087 c.811G>A p.E271K missense 0.00002473
54. 67062596 c.880G>A p.A294T missense 0.00002472
55. 67086752 c.1571C>T p.A524V missense 0.00002472
56. 67062636 c.920T>G p.M307R missense 0.00002472
57. 67086717 c.1536G>C p.E512D missense 0.00002472
58. 67066401 c.1356A>T p.K452N missense 0.00002472
59. 67039604 c.101C>T p.T34M missense 0.00002471
60. 67047371 c.488A>G p.H163R missense 0.00002471
61. 67062009 c.733C>T p.R245C missense 0.00002471
62. 67064666 c.1040G>A p.G347E missense 0.00001861
63. 67064851 c.1225C>T p.P409S missense 0.00001668
64. 67061906 c.630G>C p.E210D missense 0.00001660
65. 67066561 c.1516A>G p.T506A missense 0.00001660
66. 67049346 c.524G>C p.G175A missense 0.00001657
67. 67064798 c.1172T>A p.L391H missense 0.00001654
68. 67066306 c.1261G>A p.E421K missense 0.00001654
69. 67066307 c.1262A>G p.E421G missense 0.00001654
70. 67049360 c.538G>A p.V180M missense 0.00001653
71. 67049371 c.549C>A p.N183K missense 0.00001652
72. 67066507 c.1462G>A p.A488T missense 0.00001652
73. 67040582 c.212C>G p.A71G missense 0.00001652
74. 67049363 c.541G>T p.G181C missense 0.00001652
75. 67066331 c.1286C>T p.P429L missense 0.00001651
76. 67066508 c.1463C>T p.A488V missense 0.00001651
77. 67061950 c.674G>A p.R225K missense 0.00001649
78. 67040594 c.224G>A p.R75Q missense 0.00001649
79. 67086790 c.1609A>G p.I537V missense 0.00001649
80. 67040608 c.238T>C p.S80P missense 0.00001648
81. 67062689 c.973G>A p.D325N missense 0.00001648
82. 67086749 c.1568C>T p.P523L missense 0.00001648
83. 67047251 c.368T>C p.M123T missense 0.00001648
84. 67066471 c.1426G>A p.D476N missense 0.00001648
85. 67062603 c.887A>T p.Q296L missense 0.00001648
86. 67086739 c.1558G>T p.A520S missense 0.00001648
87. 67062006 c.730G>A p.V244I missense 0.00001647
88. 67047343 c.460A>G p.K154E missense 0.00001647
89. 67064639 c.1013G>A p.G338D missense 0.00001506
90. 67061880 c.604G>C p.E202Q missense 0.00000853
91. 67066495 c.1450G>C p.V484L missense 0.00000852
92. 67040539 c.169G>A p.A57T missense 0.00000851
93. 67049417 c.595A>T p.T199S missense 0.00000839
94. 67049411 c.589T>A p.C197S missense 0.00000835
95. 67066282 c.1237G>A p.G413R missense 0.00000834
96. 67040557 c.187C>A p.P63T missense 0.00000833
97. 67061899 c.623A>G p.K208R missense 0.00000833
98. 67049334 c.512A>G p.E171G missense 0.00000833
99. 67064843 c.1217C>T p.A406V missense 0.00000832
100. 67061901 c.625C>A p.Q209K missense 0.00000832
101. 67064840 c.1214C>T p.A405V missense 0.00000831
102. 67049402 c.580G>A p.E194K missense 0.00000831
103. 67040561 c.191C>T p.T64I missense 0.00000831
104. 67066561 c.1516A>T p.T506S missense 0.00000830
105. 67062462 c.848C>G p.T283S missense 0.00000830
106. 67040563 c.193A>G p.R65G missense 0.00000830
107. 67064831 c.1205T>A p.L402Q missense 0.00000830
108. 67049400 c.578T>A p.L193Q missense 0.00000830
109. 67064836 c.1210C>T p.P404S missense 0.00000830
110. 67064822 c.1196C>T p.P399L missense 0.00000829
111. 67061910 c.634T>C p.C212R missense 0.00000829
112. 67062474 c.860A>T p.K287I missense 0.00000829
113. 67064810 c.1184C>T p.S395F missense 0.00000828
114. 67064710 c.1084G>A p.V362I missense 0.00000828
115. 67049351 c.529G>A p.A177T missense 0.00000828
116. 67066300 c.1255G>C p.G419R missense 0.00000828
117. 67064819 c.1193C>A p.P398Q missense 0.00000828
118. 67064809 c.1183T>C p.S395P missense 0.00000828
119. 67049354 c.532A>G p.I178V missense 0.00000827
120. 67040575 c.205A>G p.T69A missense 0.00000827
121. 67064722 c.1096T>C p.F366L missense 0.00000827
122. 67049355 c.533T>C p.I178T missense 0.00000827
123. 67064801 c.1175C>T p.P392L missense 0.00000827
124. 67066548 c.1503T>G p.S501R missense 0.00000827
125. 67064743 c.1117C>A p.P373T missense 0.00000826
126. 67066511 c.1466C>G p.A489G missense 0.00000826
127. 67061929 c.653T>C p.L218P missense 0.00000826
128. 67064764 c.1138T>C p.S380P missense 0.00000826
129. 67066535 c.1490G>A p.G497D missense 0.00000826
130. 67064782 c.1156G>C p.A386P missense 0.00000826
131. 67066523 c.1478C>A p.A493E missense 0.00000826
132. 67064735 c.1109A>G p.D370G missense 0.00000826
133. 67066507 c.1462G>T p.A488S missense 0.00000826
134. 67066327 c.1282A>G p.T428A missense 0.00000826
135. 67066534 c.1489G>T p.G497C missense 0.00000826
136. 67086811 c.1630A>C p.N544H missense 0.00000825
137. 67062578 c.862A>G p.I288V missense 0.00000825
138. 67039670 c.167A>G p.Q56R missense 0.00000825
139. 67066337 c.1292C>T p.P431L missense 0.00000825
140. 67061932 c.656A>G p.Y219C missense 0.00000825
141. 67062577 c.861A>C p.K287N missense 0.00000825
142. 67066388 c.1343G>T p.G448V missense 0.00000824
143. 67066364 c.1319T>G p.L440W missense 0.00000824
144. 67062054 c.778A>G p.K260E missense 0.00000824
145. 67040638 c.268C>A p.H90N missense 0.00000824
146. 67039661 c.158A>G p.D53G missense 0.00000824
147. 67039645 c.142A>G p.R48G missense 0.00000824
148. 67086724 c.1543C>T p.P515S missense 0.00000824
149. 67039556 c.53A>G p.D18G missense 0.00000824
150. 67062643 c.927C>A p.H309Q missense 0.00000824
151. 67047341 c.458A>G p.H153R missense 0.00000824
152. 67066438 c.1393G>A p.G465S missense 0.00000824
153. 67040707 c.337A>G p.T113A missense 0.00000824
154. 67062665 c.949G>A p.E317K missense 0.00000824
155. 67062028 c.752A>G p.Y251C missense 0.00000824
156. 67086781 c.1600G>C p.A534P missense 0.00000824
157. 67039597 c.94A>T p.M32L missense 0.00000824
158. 67086712 c.1531T>C p.F511L missense 0.00000824
159. 67066483 c.1438C>T p.R480W missense 0.00000824
160. 67062597 c.881C>T p.A294V missense 0.00000824
161. 67066417 c.1372C>G p.P458A missense 0.00000824
162. 67066369 c.1324T>C p.Y442H missense 0.00000824
163. 67062070 c.794G>A p.G265E missense 0.00000824
164. 67040658 c.288G>T p.Q96H missense 0.00000824
165. 67062022 c.746A>G p.K249R missense 0.00000824
166. 67061980 c.704G>T p.R235L missense 0.00000824
167. 67039646 c.143G>A p.R48K missense 0.00000824
168. 67039563 c.60A>C p.L20F missense 0.00000824
169. 67040605 c.235C>G p.P79A missense 0.00000824
170. 67062692 c.976T>C p.F326L missense 0.00000824
171. 67086734 c.1553G>A p.G518E missense 0.00000824
172. 67047342 c.459C>G p.H153Q missense 0.00000824
173. 67047348 c.465C>G p.D155E missense 0.00000824
174. 67062678 c.962T>C p.I321T missense 0.00000824
175. 67047356 c.473T>C p.V158A missense 0.00000824
176. 67047254 c.371G>A p.C124Y missense 0.00000824
177. 67047241 c.358G>A p.D120N missense 0.00000824
178. 67066402 c.1357G>T p.A453S missense 0.00000824
179. 67062033 c.757G>A p.D253N missense 0.00000824
180. 67040623 c.253G>C p.V85L missense 0.00000824
181. 67062012 c.736G>A p.A246T missense 0.00000824
182. 67086785 c.1604G>A p.R535H missense 0.00000824
183. 67061988 c.712G>C p.E238Q missense 0.00000824
184. 67086734 c.1553G>C p.G518A missense 0.00000824
185. 67062680 c.964C>T p.R322C missense 0.00000824
186. 67047296 c.413A>G p.N138S missense 0.00000824
187. 67066427 c.1382C>T p.P461L missense 0.00000824
188. 67066376 c.1331G>A p.S444N missense 0.00000824
189. 67040664 c.294C>A p.N98K missense 0.00000824
190. 67061989 c.713A>C p.E238A missense 0.00000824
191. 67039573 c.70C>T p.L24F missense 0.00000824
192. 67039552 c.49A>G p.M17V missense 0.00000824
193. 67086757 c.1576G>A p.G526S missense 0.00000824
194. 67066484 c.1439G>A p.R480Q missense 0.00000824
195. 67066475 c.1430C>T p.S477L missense 0.00000824
196. 67062587 c.871G>A p.A291T missense 0.00000824
197. 67047256 c.373G>A p.E125K missense 0.00000824
198. 67047242 c.359A>T p.D120V missense 0.00000824
199. 67066417 c.1372C>A p.P458T missense 0.00000824
200. 67062051 c.775T>A p.S259T missense 0.00000824
201. 67039609 c.106C>T p.P36S missense 0.00000824
202. 67061943 c.667G>A p.E223K missense 0.00000824
203. 67039655 c.152C>T p.A51V missense 0.00000824
204. 67062641 c.925C>T p.H309Y missense 0.00000824
205. 67047331 c.448T>A p.F150I missense 0.00000824
206. 67062010 c.734G>A p.R245H missense 0.00000824
207. 67062082 c.806T>C p.M269T missense 0.00000824
208. 67040690 c.320T>A p.I107N missense 0.00000824
209. 67066432 c.1387A>G p.S463G missense 0.00000824
210. 67062003 c.727C>T p.H243Y missense 0.00000824
211. 67039576 c.73A>C p.I25L missense 0.00000824
212. 67066486 c.1441A>C p.K481Q missense 0.00000824
213. 67066475 c.1430C>G p.S477W missense 0.00000824
214. 67062596 c.880G>T p.A294S missense 0.00000824
215. 67047287 c.404A>G p.Y135C 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.