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. 67066355 c.1310C>T p.A437V missense 0.00003298
42. 67086793 c.1612T>G p.F538V missense 0.00003298
43. 67062637 c.921G>A p.M307I missense 0.00003296
44. 67062624 c.908G>A p.G303D missense 0.00003295
45. 67047290 c.407G>C p.C136S 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. 67086752 c.1571C>T p.A524V missense 0.00002472
55. 67062636 c.920T>G p.M307R missense 0.00002472
56. 67086717 c.1536G>C p.E512D missense 0.00002472
57. 67066401 c.1356A>T p.K452N missense 0.00002472
58. 67062596 c.880G>A p.A294T missense 0.00002472
59. 67047371 c.488A>G p.H163R missense 0.00002471
60. 67039604 c.101C>T p.T34M 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. 67066561 c.1516A>G p.T506A missense 0.00001660
65. 67061906 c.630G>C p.E210D missense 0.00001660
66. 67049346 c.524G>C p.G175A missense 0.00001657
67. 67066306 c.1261G>A p.E421K missense 0.00001654
68. 67066307 c.1262A>G p.E421G missense 0.00001654
69. 67064798 c.1172T>A p.L391H missense 0.00001654
70. 67049360 c.538G>A p.V180M missense 0.00001653
71. 67066507 c.1462G>A p.A488T missense 0.00001652
72. 67040582 c.212C>G p.A71G missense 0.00001652
73. 67049363 c.541G>T p.G181C missense 0.00001652
74. 67049371 c.549C>A p.N183K missense 0.00001652
75. 67066508 c.1463C>T p.A488V missense 0.00001651
76. 67066331 c.1286C>T p.P429L missense 0.00001651
77. 67040594 c.224G>A p.R75Q missense 0.00001649
78. 67086790 c.1609A>G p.I537V missense 0.00001649
79. 67061950 c.674G>A p.R225K missense 0.00001649
80. 67066471 c.1426G>A p.D476N missense 0.00001648
81. 67062603 c.887A>T p.Q296L missense 0.00001648
82. 67086739 c.1558G>T p.A520S missense 0.00001648
83. 67040608 c.238T>C p.S80P missense 0.00001648
84. 67062689 c.973G>A p.D325N missense 0.00001648
85. 67086749 c.1568C>T p.P523L missense 0.00001648
86. 67047251 c.368T>C p.M123T missense 0.00001648
87. 67047343 c.460A>G p.K154E missense 0.00001647
88. 67062006 c.730G>A p.V244I 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. 67049402 c.580G>A p.E194K missense 0.00000831
102. 67040561 c.191C>T p.T64I missense 0.00000831
103. 67064840 c.1214C>T p.A405V missense 0.00000831
104. 67064831 c.1205T>A p.L402Q missense 0.00000830
105. 67049400 c.578T>A p.L193Q missense 0.00000830
106. 67064836 c.1210C>T p.P404S missense 0.00000830
107. 67066561 c.1516A>T p.T506S missense 0.00000830
108. 67062462 c.848C>G p.T283S missense 0.00000830
109. 67040563 c.193A>G p.R65G missense 0.00000830
110. 67061910 c.634T>C p.C212R missense 0.00000829
111. 67062474 c.860A>T p.K287I missense 0.00000829
112. 67064822 c.1196C>T p.P399L 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. 67040575 c.205A>G p.T69A missense 0.00000827
120. 67064722 c.1096T>C p.F366L missense 0.00000827
121. 67049355 c.533T>C p.I178T missense 0.00000827
122. 67064801 c.1175C>T p.P392L missense 0.00000827
123. 67066548 c.1503T>G p.S501R missense 0.00000827
124. 67049354 c.532A>G p.I178V missense 0.00000827
125. 67064764 c.1138T>C p.S380P missense 0.00000826
126. 67066535 c.1490G>A p.G497D missense 0.00000826
127. 67064782 c.1156G>C p.A386P missense 0.00000826
128. 67066523 c.1478C>A p.A493E missense 0.00000826
129. 67064735 c.1109A>G p.D370G missense 0.00000826
130. 67066507 c.1462G>T p.A488S missense 0.00000826
131. 67066327 c.1282A>G p.T428A missense 0.00000826
132. 67066534 c.1489G>T p.G497C missense 0.00000826
133. 67064743 c.1117C>A p.P373T missense 0.00000826
134. 67066511 c.1466C>G p.A489G missense 0.00000826
135. 67061929 c.653T>C p.L218P missense 0.00000826
136. 67039670 c.167A>G p.Q56R missense 0.00000825
137. 67066337 c.1292C>T p.P431L missense 0.00000825
138. 67061932 c.656A>G p.Y219C missense 0.00000825
139. 67062577 c.861A>C p.K287N missense 0.00000825
140. 67086811 c.1630A>C p.N544H missense 0.00000825
141. 67062578 c.862A>G p.I288V missense 0.00000825
142. 67061988 c.712G>C p.E238Q missense 0.00000824
143. 67066483 c.1438C>T p.R480W missense 0.00000824
144. 67062597 c.881C>T p.A294V missense 0.00000824
145. 67066417 c.1372C>G p.P458A missense 0.00000824
146. 67066369 c.1324T>C p.Y442H missense 0.00000824
147. 67062070 c.794G>A p.G265E missense 0.00000824
148. 67040658 c.288G>T p.Q96H missense 0.00000824
149. 67062022 c.746A>G p.K249R missense 0.00000824
150. 67061980 c.704G>T p.R235L missense 0.00000824
151. 67039646 c.143G>A p.R48K missense 0.00000824
152. 67040605 c.235C>G p.P79A missense 0.00000824
153. 67062692 c.976T>C p.F326L missense 0.00000824
154. 67086734 c.1553G>A p.G518E missense 0.00000824
155. 67039563 c.60A>C p.L20F missense 0.00000824
156. 67062678 c.962T>C p.I321T missense 0.00000824
157. 67047356 c.473T>C p.V158A missense 0.00000824
158. 67047342 c.459C>G p.H153Q missense 0.00000824
159. 67047254 c.371G>A p.C124Y missense 0.00000824
160. 67047241 c.358G>A p.D120N missense 0.00000824
161. 67066402 c.1357G>T p.A453S missense 0.00000824
162. 67062012 c.736G>A p.A246T missense 0.00000824
163. 67062033 c.757G>A p.D253N missense 0.00000824
164. 67040623 c.253G>C p.V85L missense 0.00000824
165. 67086785 c.1604G>A p.R535H missense 0.00000824
166. 67086734 c.1553G>C p.G518A missense 0.00000824
167. 67062680 c.964C>T p.R322C missense 0.00000824
168. 67047296 c.413A>G p.N138S missense 0.00000824
169. 67066427 c.1382C>T p.P461L missense 0.00000824
170. 67066376 c.1331G>A p.S444N missense 0.00000824
171. 67040664 c.294C>A p.N98K missense 0.00000824
172. 67061989 c.713A>C p.E238A missense 0.00000824
173. 67039573 c.70C>T p.L24F missense 0.00000824
174. 67039552 c.49A>G p.M17V missense 0.00000824
175. 67086757 c.1576G>A p.G526S missense 0.00000824
176. 67066484 c.1439G>A p.R480Q missense 0.00000824
177. 67066475 c.1430C>T p.S477L missense 0.00000824
178. 67062587 c.871G>A p.A291T missense 0.00000824
179. 67047256 c.373G>A p.E125K missense 0.00000824
180. 67047242 c.359A>T p.D120V missense 0.00000824
181. 67066417 c.1372C>A p.P458T missense 0.00000824
182. 67062051 c.775T>A p.S259T missense 0.00000824
183. 67039609 c.106C>T p.P36S missense 0.00000824
184. 67061943 c.667G>A p.E223K missense 0.00000824
185. 67039655 c.152C>T p.A51V missense 0.00000824
186. 67062641 c.925C>T p.H309Y missense 0.00000824
187. 67047331 c.448T>A p.F150I missense 0.00000824
188. 67062010 c.734G>A p.R245H missense 0.00000824
189. 67040690 c.320T>A p.I107N missense 0.00000824
190. 67066432 c.1387A>G p.S463G missense 0.00000824
191. 67062082 c.806T>C p.M269T missense 0.00000824
192. 67062003 c.727C>T p.H243Y missense 0.00000824
193. 67039576 c.73A>C p.I25L missense 0.00000824
194. 67066486 c.1441A>C p.K481Q missense 0.00000824
195. 67066475 c.1430C>G p.S477W missense 0.00000824
196. 67062596 c.880G>T p.A294S missense 0.00000824
197. 67047287 c.404A>G p.Y135C missense 0.00000824
198. 67066364 c.1319T>G p.L440W missense 0.00000824
199. 67062054 c.778A>G p.K260E missense 0.00000824
200. 67040638 c.268C>A p.H90N missense 0.00000824
201. 67066388 c.1343G>T p.G448V missense 0.00000824
202. 67039645 c.142A>G p.R48G missense 0.00000824
203. 67039661 c.158A>G p.D53G missense 0.00000824
204. 67086724 c.1543C>T p.P515S missense 0.00000824
205. 67039556 c.53A>G p.D18G missense 0.00000824
206. 67062643 c.927C>A p.H309Q missense 0.00000824
207. 67047341 c.458A>G p.H153R missense 0.00000824
208. 67040707 c.337A>G p.T113A missense 0.00000824
209. 67062665 c.949G>A p.E317K missense 0.00000824
210. 67047348 c.465C>G p.D155E missense 0.00000824
211. 67066438 c.1393G>A p.G465S missense 0.00000824
212. 67062028 c.752A>G p.Y251C missense 0.00000824
213. 67086781 c.1600G>C p.A534P missense 0.00000824
214. 67039597 c.94A>T p.M32L missense 0.00000824
215. 67086712 c.1531T>C p.F511L 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.