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