TRIM55 missense variants in ExAC

TRIM55 gene summary
TRIM55 variants in

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