JUP protein-altering variants in ExAC


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