JUP protein-altering variants in ExAC

JUP gene summary
JUP variants in DCM

The table below lists the JUP protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 39928101 c.6G>T p.E2D missense 0.00001154●●●●●●
2. 39928095 c.12G>T p.M4I missense 0.00001113●●●●●●
3. 39928087 c.20T>C p.M7T missense 0.00001035●●●●●●
4. 39928086 c.21G>C p.M7I missense 0.00005178●●●●●●
5. 39928076 c.31A>G p.I11V missense 0.00000945●●●●●●
6. 39928067 c.40A>C p.T14P missense 0.00000904●●●●●●
7. 39928066 c.41C>T p.T14I missense 0.00000900●●●●●●
8. 39928058 c.49C>T p.Q17X nonsense 0.00000879●●●●●●
9. 39928052 c.55_56insGGC p.Thr19delinsArgPro inframe 0.00000876●●●●●●
10. 39928036 c.71C>T p.S24L missense 0.00000849●●●●●●
11. 39928022 c.85G>A p.G29S missense 0.00000832●●●●●●
12. 39928019 c.88G>A p.A30T missense 0.00000831●●●●●●
13. 39928007 c.100G>A p.V34M missense 0.00000827●●●●●●
14. 39928004 c.103C>A p.P35T missense 0.00000827●●●●●●
15. 39927998 c.109G>A p.V37I missense 0.00004133●●●●●●
16. 39927993 c.114C>A p.S38R missense 0.00000826●●●●●●
17. 39927992 c.115A>G p.S39G missense 0.00001652●●●●●●
18. 39927991 c.116_118delGCA p.Ser39del inframe 0.00000826●●●●●●
19. 39927982 c.125T>A p.I42N missense 0.00000825●●●●●●
20. 39927971 c.136G>A p.D46N missense 0.00000825●●●●●●
21. 39927961 c.146G>A p.C49Y missense 0.00000825●●●●●●
22. 39927959 c.148G>A p.G50R missense 0.00000825●●●●●●
23. 39927956 c.151C>T p.R51C missense 0.00000825●●●●●●
24. 39927955 c.152G>A p.R51H missense 0.00000825●●●●●●
25. 39927947 c.160A>G p.T54A missense 0.00000825●●●●●●
26. 39927946 c.161C>A p.T54K missense 0.00000825●●●●●●
27. 39927946 c.161C>T p.T54M missense 0.00004126●●●●●●
28. 39927941 c.166A>G p.K56E missense 0.00000825●●●●●●
29. 39927910 c.197C>T p.P66L missense 0.00002479●●●●●●
30. 39927898 c.208+1G>A essential splice site 0.00001655●●●●●●
31. 39925927 c.211G>T p.D71Y missense 0.00003051●●●●●●
32. 39925925 c.213T>A p.D71E missense 0.00000935●●●●●●
33. 39925920 c.218A>C p.E73A missense 0.00002107●●●●●●
34. 39925912 c.226A>C p.M76L missense 0.00001063●●●●●●
35. 39925911 c.227T>G p.M76R missense 0.00001064●●●●●●
36. 39925910 c.228G>A p.M76I missense 0.00001067●●●●●●
37. 39925908 c.230C>T p.S77F missense 0.00001070●●●●●●
38. 39925890 c.248A>G p.K83R missense 0.00005529●●●●●●
39. 39925888 c.250C>T p.R84W missense 0.00001114●●●●●●
40. 39925887 c.251G>A p.R84Q missense 0.00003346●●●●●●
41. 39925885 c.253G>C p.V85L missense 0.00003357●●●●●●
42. 39925885 c.253G>A p.V85M missense 0.00001119●●●●●●
43. 39925881 c.257G>C p.R86P missense 0.00001128●●●●●●
44. 39925876 c.262G>A p.A88T missense 0.00001135●●●●●●
45. 39925875 c.263C>A p.A88D missense 0.00001134●●●●●●
46. 39925875 c.263C>G p.A88G missense 0.00001134●●●●●●
47. 39925872 c.266T>C p.M89T missense 0.00004535●●●●●●
48. 39925864 c.274G>T p.G92C missense 0.00001142●●●●●●
49. 39925863 c.275G>A p.G92D missense 0.00004562●●●●●●
50. 39925852 c.286G>A p.E96K missense 0.00003453●●●●●●
51. 39925848 c.290A>T p.D97V missense 0.00001147●●●●●●
52. 39925842 c.296C>T p.S99L missense 0.00004579●●●●●●
53. 39925806 c.332C>T p.T111I missense 0.00005500●●●●●●
54. 39925803 c.335A>G p.N112S missense 0.00009881●●●●●●
55. 39925798 c.340C>T p.Q114X nonsense 0.00002172●●●●●●
56. 39925795 c.343C>T p.R115X nonsense 0.00002169●●●●●●
57. 39925794 c.344G>A p.R115Q missense 0.00002152●●●●●●
58. 39925786 c.352G>A p.E118K missense 0.00003174●●●●●●
59. 39925782 c.356C>T p.P119L missense 0.00004155●●●●●●
60. 39925774 c.364C>A p.L122M missense 0.00001006●●●●●●
61. 39925764 c.374C>T p.S125L missense 0.00000981●●●●●●
62. 39925732 c.406G>A p.D136N missense 0.00001919●●●●●●
63. 39925726 c.412G>A p.E138K missense 0.00001927●●●●●●
64. 39925724 c.414G>C p.E138D missense 0.00000962●●●●●●
65. 39925705 c.433C>T p.P145S missense 0.00000980●●●●●●
66. 39925702 c.436G>A p.E146K missense 0.00001974●●●●●●
67. 39925682 c.456C>G p.N152K missense 0.00001040●●●●●●
68. 39925681 c.457G>A p.D153N missense 0.00001049●●●●●●
69. 39925679 c.459C>A p.D153E missense 0.00001063●●●●●●
70. 39925678 c.460G>A p.E154K missense 0.00001075●●●●●●
71. 39925671 c.467C>T p.P156L missense 0.00002240●●●●●●
72. 39925453 c.475G>T p.V159L missense 0.00004237●●●●●●
73. 39925443 c.485C>T p.A162V missense 0.00000845●●●●●●
74. 39925441 c.487G>A p.A163T missense 0.00000845●●●●●●
75. 39925438 c.490A>G p.M164V missense 0.00003381●●●●●●
76. 39925435 c.493A>G p.I165V missense 0.00000845●●●●●●
77. 39925419 c.509C>T p.S170L missense 0.00003377●●●●●●
78. 39925414 c.514A>G p.K172E missense 0.00000845●●●●●●
79. 39925408 c.520G>A p.A174T missense 0.00001694●●●●●●
80. 39925404 c.524C>T p.S175L missense 0.00001699●●●●●●
81. 39925402 c.526C>T p.R176W missense 0.00006811●●●●●●
82. 39925399 c.529C>T p.R177W missense 0.00005130●●●●●●
83. 39925398 c.530G>A p.R177Q missense 0.00002568●●●●●●
84. 39925383 c.545C>T p.S182L missense 0.00003457●●●●●●
85. 39925380 c.548C>T p.P183L missense 0.00000863●●●●●●
86. 39925366 c.562G>A p.A188T missense 0.00000861●●●●●●
87. 39925360 c.568G>T p.V190L missense 0.00001727●●●●●●
88. 39925360 c.568G>A p.V190M missense 0.00004317●●●●●●
89. 39925360 c.568G>C p.V190L missense 0.00000863●●●●●●
90. 39925357 c.571C>T p.R191C missense 0.00000865●●●●●●
91. 39925356 c.572G>A p.R191H missense 0.00001732●●●●●●
92. 39925356 c.572G>T p.R191L missense 0.00000866●●●●●●
93. 39925351 c.577A>G p.M193V missense 0.00000868●●●●●●
94. 39925350 c.578T>C p.M193T missense 0.00004344●●●●●●
95. 39925337 c.591C>A p.S197R missense 0.00000885●●●●●●
96. 39925336 c.592G>A p.D198N missense 0.00000888●●●●●●
97. 39925333 c.595C>G p.L199V missense 0.00003565●●●●●●
98. 39925327 c.601A>G p.T201A missense 0.00000900●●●●●●
99. 39925323 c.605C>G p.A202G missense 0.00000910●●●●●●
100. 39925321 c.607C>T p.R203C missense 0.00004577●●●●●●
101. 39925320 c.608G>A p.R203H missense 0.00003684●●●●●●
102. 39925304 c.624C>G p.I208M missense 0.00002871●●●●●●
103. 39925295 c.633C>A p.N211K missense 0.00001965●●●●●●
104. 39925294 c.634C>G p.L212V missense 0.00000987●●●●●●
105. 39925285 c.643C>T p.H215Y missense 0.00001040●●●●●●
106. 39925281 c.647G>A p.R216Q missense 0.00001078●●●●●●
107. 39925273 c.655C>A p.L219M missense 0.00001125●●●●●●
108. 39925272 c.656T>C p.L219P missense 0.00001127●●●●●●
109. 39925267 c.661G>A p.A221T missense 0.00007040●●●●●●
110. 39925257 c.671A>T p.K224M missense 0.00001222●●●●●●
111. 39925254 c.674C>T p.S225L missense 0.00001247●●●●●●
112. 39925246 c.682A>G p.I228V missense 0.00003940●●●●●●
113. 39925236 c.692T>C p.L231P missense 0.00001380●●●●●●
114. 39925231 c.697C>T p.R233C missense 0.00002873●●●●●●
115. 39925221 c.707G>A p.S236N missense 0.00001542●●●●●●
116. 39923818 c.722C>T p.S241L missense 0.00000841●●●●●●
117. 39923801 c.739A>G p.I247V missense 0.00000829●●●●●●
118. 39923794 c.746C>T p.T249M missense 0.00000828●●●●●●
119. 39923762 c.778G>A p.A260T missense 0.00003303●●●●●●
120. 39923758 c.782A>G p.K261R missense 0.00000826●●●●●●
121. 39923747 c.793C>T p.R265C missense 0.00000825●●●●●●
122. 39923746 c.794G>A p.R265H missense 0.00000825●●●●●●
123. 39923731 c.809T>A p.L270Q missense 0.00002475●●●●●●
124. 39923722 c.818T>C p.M273T missense 0.00002474●●●●●●
125. 39923713 c.827T>G p.L276R missense 0.00001649●●●●●●
126. 39923710 c.830T>G p.L277R missense 0.00000825●●●●●●
127. 39923710 c.830T>C p.L277P missense 0.00000825●●●●●●
128. 39923707 c.833A>G p.N278S missense 0.00002474●●●●●●
129. 39923698 c.842A>G p.N281S missense 0.00000825●●●●●●
130. 39923671 c.869A>C p.D290A missense 0.00001650●●●●●●
131. 39923650 c.890A>G p.Y297C missense 0.00001651●●●●●●
132. 39923648 c.892G>A p.G298S missense 0.00007429●●●●●●
133. 39923644 c.896A>G p.N299S missense 0.00001651●●●●●●
134. 39923639 c.901G>C p.E301Q missense 0.00000826●●●●●●
135. 39923638 c.902A>G p.E301G missense 0.00000826●●●●●●
136. 39923635 c.905G>A p.S302N missense 0.00000826●●●●●●
137. 39921315 c.914T>C p.I305T missense 0.00000824●●●●●●
138. 39921313 c.916delA p.Ile306SerfsTer56 frameshift 0.00000824●●●●●●
139. 39921303 c.926A>G p.N309S missense 0.00003297●●●●●●
140. 39921303 c.926A>T p.N309I missense 0.00004945●●●●●●
141. 39921302 c.927T>A p.N309K missense 0.00000824●●●●●●
142. 39921283 c.946G>A p.V316M missense 0.00000824●●●●●●
143. 39921279 c.950A>T p.Q317L missense 0.00000824●●●●●●
144. 39921279 c.950A>C p.Q317P missense 0.00006591●●●●●●
145. 39921278 c.951G>C p.Q317H missense 0.00000824●●●●●●
146. 39921277 c.952A>G p.I318V missense 0.00000824●●●●●●
147. 39921270 c.959G>A p.R320H missense 0.00004119●●●●●●
148. 39921265 c.964T>C p.Y322H missense 0.00000824●●●●●●
149. 39921262 c.967A>G p.S323G missense 0.00002471●●●●●●
150. 39921259 c.970T>A p.Y324N missense 0.00001648●●●●●●
151. 39921256 c.973G>A p.E325K missense 0.00000824●●●●●●
152. 39921240 c.989C>A p.T330N missense 0.00000824●●●●●●
153. 39921232 c.997C>T p.R333C missense 0.00000824●●●●●●
154. 39921231 c.998G>A p.R333H missense 0.00000824●●●●●●
155. 39921229 c.1000G>A p.V334M missense 0.00002472●●●●●●
156. 39921194 c.1035G>C p.K345N missense 0.00008240●●●●●●
157. 39921193 c.1036C>T p.P346S missense 0.00000824●●●●●●
158. 39921190 c.1039G>A p.A347T missense 0.00001648●●●●●●
159. 39921183 c.1046T>C p.V349A missense 0.00000824●●●●●●
160. 39921181 c.1048G>C p.E350Q missense 0.00000824●●●●●●
161. 39921174 c.1054+1G>A essential splice site 0.00000824●●●●●●
162. 39921050 c.1073G>A p.G358D missense 0.00000825●●●●●●
163. 39921027 c.1096C>A p.P366T missense 0.00000825●●●●●●
164. 39921023 c.1100G>A p.R367H missense 0.00000825●●●●●●
165. 39921015 c.1108C>T p.Q370X nonsense 0.00000825●●●●●●
166. 39921010 c.1113C>A p.N371K missense 0.00000825●●●●●●
167. 39921003 c.1120T>G p.W374G missense 0.00000825●●●●●●
168. 39920994 c.1129C>A p.R377S missense 0.00002476●●●●●●
169. 39920993 c.1130G>A p.R377H missense 0.00003301●●●●●●
170. 39919558 c.1174G>A p.V392M missense 0.00000827●●●●●●
171. 39919519 c.1213G>A p.V405I missense 0.00009891●●●●●●
172. 39919515 c.1217A>G p.N406S missense 0.00001648●●●●●●
173. 39919513 c.1219G>A p.V407I missense 0.00002472●●●●●●
174. 39919510 c.1222C>T p.L408F missense 0.00001648●●●●●●
175. 39919497 c.1235C>T p.T412M missense 0.00001648●●●●●●
176. 39919476 c.1256C>T p.T419I missense 0.00000824●●●●●●
177. 39919474 c.1258T>C p.C420R missense 0.00000824●●●●●●
178. 39919470 c.1262A>G p.N421S missense 0.00000824●●●●●●
179. 39919452 c.1280C>T p.T427M missense 0.00004943●●●●●●
180. 39919443 c.1289C>A p.T430K missense 0.00000824●●●●●●
181. 39919424 c.1308G>T p.E436D missense 0.00000824●●●●●●
182. 39919413 c.1319A>G p.H440R missense 0.00000824●●●●●●
183. 39919408 c.1324A>T p.I442F missense 0.00004120●●●●●●
184. 39919402 c.1330C>T p.R444C missense 0.00001648●●●●●●
185. 39919401 c.1331G>A p.R444H missense 0.00003296●●●●●●
186. 39919399 c.1333G>C p.A445P missense 0.00001648●●●●●●
187. 39919396 c.1336G>T p.G446C missense 0.00001648●●●●●●
188. 39919389 c.1343A>G p.K448R missense 0.00000824●●●●●●
189. 39919384 c.1348G>A p.D450N missense 0.00000824●●●●●●
190. 39919384 c.1348_1350delGAC p.Asp450del inframe 0.00000824●●●●●●
191. 39919377 c.1355C>T p.T452M missense 0.00007418●●●●●●
192. 39919373 c.1359G>T p.E453D missense 0.00005770●●●●●●
193. 39919372 c.1360C>T p.P454S missense 0.00000824●●●●●●
194. 39919360 c.1372G>A p.A458T missense 0.00008243●●●●●●
195. 39919354 c.1378C>T p.R460C missense 0.00001649●●●●●●
196. 39919353 c.1379G>A p.R460H missense 0.00005771●●●●●●
197. 39919348 c.1384C>T p.L462F missense 0.00000824●●●●●●
198. 39919339 c.1393C>T p.R465C missense 0.00001648●●●●●●
199. 39919338 c.1394G>A p.R465H missense 0.00000824●●●●●●
200. 39919332 c.1400C>T p.P467L missense 0.00004121●●●●●●
201. 39919302 c.1430G>A p.R477H missense 0.00003297●●●●●●
202. 39919293 c.1439A>G p.Y480C missense 0.00000824●●●●●●
203. 39919277 c.1455C>G p.I485M missense 0.00001650●●●●●●
204. 39919276 c.1456G>A p.V486M missense 0.00000825●●●●●●
205. 39919267 c.1465C>T p.L489F missense 0.00000825●●●●●●
206. 39919254 c.1478A>G p.N493S missense 0.00000827●●●●●●
207. 39919237 c.1495A>C p.K499Q missense 0.00000830●●●●●●
208. 39915094 c.1526C>A p.A509D missense 0.00000945●●●●●●
209. 39915092 c.1528C>G p.L510V missense 0.00000945●●●●●●
210. 39915044 c.1576C>T p.R526C missense 0.00002146●●●●●●
211. 39915043 c.1577G>A p.R526H missense 0.00003265●●●●●●
212. 39915043 c.1577G>T p.R526L missense 0.00001088●●●●●●
213. 39915038 c.1582G>A p.V528I missense 0.00009868●●●●●●
214. 39915014 c.1606C>G p.Q536E missense 0.00001221●●●●●●
215. 39915002 c.1618C>T p.R540C missense 0.00002578●●●●●●
216. 39915001 c.1619G>A p.R540H missense 0.00009106●●●●●●
217. 39914998 c.1622A>C p.H541P missense 0.00001305●●●●●●
218. 39914996 c.1624G>A p.V542I missense 0.00001318●●●●●●
219. 39914989 c.1631C>T p.A544V missense 0.00001348●●●●●●
220. 39914986 c.1634G>A p.G545D missense 0.00001358●●●●●●
221. 39914978 c.1642C>G p.Q548E missense 0.00001377●●●●●●
222. 39914766 c.1658G>A p.G553D missense 0.00000859●●●●●●
223. 39914757 c.1667T>C p.M556T missense 0.00001702●●●●●●
224. 39914736 c.1688G>A p.C563Y missense 0.00000837●●●●●●
225. 39914719 c.1705A>T p.I569F missense 0.00000829●●●●●●
226. 39914710 c.1714C>T p.R572W missense 0.00000828●●●●●●
227. 39914709 c.1715G>A p.R572Q missense 0.00001656●●●●●●
228. 39914695 c.1729C>T p.R577C missense 0.00005790●●●●●●
229. 39914680 c.1744C>T p.R582W missense 0.00000827●●●●●●
230. 39914671 c.1753A>G p.T585A missense 0.00001654●●●●●●
231. 39914664 c.1760C>T p.P587L missense 0.00000827●●●●●●
232. 39914026 c.1784C>T p.S595L missense 0.00002649●●●●●●
233. 39914006 c.1804C>T p.R602C missense 0.00004351●●●●●●
234. 39914003 c.1807G>A p.V603M missense 0.00001738●●●●●●
235. 39913999 c.1811C>A p.A604D missense 0.00000868●●●●●●
236. 39913960 c.1850C>T p.A617V missense 0.00006020●●●●●●
237. 39913942 c.1868C>G p.A623G missense 0.00000862●●●●●●
238. 39913934 c.1876G>A p.A626T missense 0.00001724●●●●●●
239. 39913930 c.1880C>T p.S627L missense 0.00005182●●●●●●
240. 39913928 c.1882G>A p.A628T missense 0.00006912●●●●●●
241. 39913909 c.1901T>C p.L634P missense 0.00000862●●●●●●
242. 39913906 c.1904A>G p.H635R missense 0.00000862●●●●●●
243. 39913901 c.1909C>T p.R637C missense 0.00002588●●●●●●
244. 39913900 c.1910G>A p.R637H missense 0.00007771●●●●●●
245. 39913898 c.1912A>C p.N638H missense 0.00005164●●●●●●
246. 39913780 c.1933G>A p.A645T missense 0.00003296●●●●●●
247. 39913761 c.1952G>A p.R651H missense 0.00001648●●●●●●
248. 39913737 c.1976A>G p.D659G missense 0.00000824●●●●●●
249. 39913732 c.1981C>T p.R661W missense 0.00005766●●●●●●
250. 39913731 c.1982G>A p.R661Q missense 0.00009884●●●●●●
251. 39913726 c.1987C>T p.R663C missense 0.00000824●●●●●●
252. 39913723 c.1990G>A p.V664M missense 0.00000824●●●●●●
253. 39913717 c.1996G>T p.V666L missense 0.00000824●●●●●●
254. 39913717 c.1996G>A p.V666M missense 0.00000824●●●●●●
255. 39913689 c.2024A>G p.H675R missense 0.00001647●●●●●●
256. 39913683 c.2030C>T p.P677L missense 0.00001647●●●●●●
257. 39913681 c.2032G>A p.A678T missense 0.00000824●●●●●●
258. 39912444 c.2069A>G p.N690S missense 0.00007657●●●●●●
259. 39912442 c.2071G>A p.E691K missense 0.00000851●●●●●●
260. 39912439 c.2074C>T p.P692S missense 0.00000853●●●●●●
261. 39912435 c.2078A>G p.Y693C missense 0.00002563●●●●●●
262. 39912429 c.2084A>G p.D695G missense 0.00000857●●●●●●
263. 39912139 c.2095G>T p.A699S missense 0.00000838●●●●●●
264. 39912132 c.2102A>G p.Y701C missense 0.00009202●●●●●●
265. 39912130 c.2104C>T p.R702C missense 0.00002510●●●●●●
266. 39912129 c.2105G>A p.R702H missense 0.00007536●●●●●●
267. 39912112 c.2122G>A p.D708N missense 0.00003342●●●●●●
268. 39912106 c.2128C>T p.P710S missense 0.00002505●●●●●●
269. 39912102 c.2132T>C p.L711P missense 0.00000835●●●●●●
270. 39912096 c.2138C>T p.P713L missense 0.00001671●●●●●●
271. 39912089 c.2145G>C p.E715D missense 0.00002507●●●●●●
272. 39912077 c.2157_2162dupCATGGA p.Met720_Asp721dup inframe 0.00000837●●●●●●
273. 39912076 c.2158A>G p.M720V missense 0.00000836●●●●●●
274. 39912067 c.2167_2172delGACTAC p.D723_Y724del2 inframe 0.00003351●●●●●●
275. 39912045 c.2189G>A p.S730N missense 0.00000844●●●●●●
276. 39912043 c.2191G>A p.D731N missense 0.00001692●●●●●●
277. 39912040 c.2194G>A p.G732S missense 0.00000849●●●●●●
278. 39912019 c.2215A>G p.T739A missense 0.00006098●●●●●●

* 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.