JUP missense variants in ExAC

JUP gene summary
JUP variants in DCM

The table below lists the JUP 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. 39912145 c.2089A>T p.M697L missense 0.65923631●●●●●●
2. 39925713 c.425G>A p.R142H missense 0.04974306●●●●●●
3. 39913771 c.1942G>A p.V648I missense 0.00743084●●●●●●
4. 39925401 c.527G>A p.R176Q missense 0.00108275●●●●●●
5. 39914003 c.1807G>T p.V603L missense 0.00066043●●●●●●
6. 39912454 c.2059A>G p.I687V missense 0.00031466●●●●●●
7. 39919366 c.1366G>A p.V456I missense 0.00029675●●●●●●
8. 39912027 c.2207C>T p.P736L missense 0.00025867●●●●●●
9. 39919560 c.1172G>A p.S391N missense 0.00023171●●●●●●
10. 39921271 c.958C>T p.R320C missense 0.00018950●●●●●●
11. 39919562 c.1170G>T p.E390D missense 0.00018231●●●●●●
12. 39915113 c.1507G>A p.G503S missense 0.00016904●●●●●●
13. 39925234 c.694G>A p.V232I missense 0.00016862●●●●●●
14. 39913948 c.1862T>C p.I621T missense 0.00016359●●●●●●
15. 39925368 c.560C>T p.A187V missense 0.00012886●●●●●●
16. 39919528 c.1204G>A p.V402M missense 0.00011543●●●●●●
17. 39928051 c.56C>T p.T19I missense 0.00011388●●●●●●
18. 39925711 c.427G>A p.A143T missense 0.00010731●●●●●●
19. 39919519 c.1213G>A p.V405I missense 0.00009891●●●●●●
20. 39913731 c.1982G>A p.R661Q missense 0.00009884●●●●●●
21. 39925803 c.335A>G p.N112S missense 0.00009881●●●●●●
22. 39915038 c.1582G>A p.V528I missense 0.00009868●●●●●●
23. 39912132 c.2102A>G p.Y701C missense 0.00009202●●●●●●
24. 39915001 c.1619G>A p.R540H missense 0.00009106●●●●●●
25. 39919360 c.1372G>A p.A458T missense 0.00008243●●●●●●
26. 39921194 c.1035G>C p.K345N missense 0.00008240●●●●●●
27. 39913900 c.1910G>A p.R637H missense 0.00007771●●●●●●
28. 39912444 c.2069A>G p.N690S missense 0.00007657●●●●●●
29. 39912129 c.2105G>A p.R702H missense 0.00007536●●●●●●
30. 39923648 c.892G>A p.G298S missense 0.00007429●●●●●●
31. 39919377 c.1355C>T p.T452M missense 0.00007418●●●●●●
32. 39925267 c.661G>A p.A221T missense 0.00007040●●●●●●
33. 39913928 c.1882G>A p.A628T missense 0.00006912●●●●●●
34. 39925402 c.526C>T p.R176W missense 0.00006811●●●●●●
35. 39921279 c.950A>C p.Q317P missense 0.00006591●●●●●●
36. 39912019 c.2215A>G p.T739A missense 0.00006098●●●●●●
37. 39913960 c.1850C>T p.A617V missense 0.00006020●●●●●●
38. 39914695 c.1729C>T p.R577C missense 0.00005790●●●●●●
39. 39919353 c.1379G>A p.R460H missense 0.00005771●●●●●●
40. 39919373 c.1359G>T p.E453D missense 0.00005770●●●●●●
41. 39913732 c.1981C>T p.R661W missense 0.00005766●●●●●●
42. 39925890 c.248A>G p.K83R missense 0.00005529●●●●●●
43. 39925806 c.332C>T p.T111I missense 0.00005500●●●●●●
44. 39913930 c.1880C>T p.S627L missense 0.00005182●●●●●●
45. 39928086 c.21G>C p.M7I missense 0.00005178●●●●●●
46. 39913898 c.1912A>C p.N638H missense 0.00005164●●●●●●
47. 39925399 c.529C>T p.R177W missense 0.00005130●●●●●●
48. 39921303 c.926A>T p.N309I missense 0.00004945●●●●●●
49. 39919452 c.1280C>T p.T427M missense 0.00004943●●●●●●
50. 39925842 c.296C>T p.S99L missense 0.00004579●●●●●●
51. 39925321 c.607C>T p.R203C missense 0.00004577●●●●●●
52. 39925863 c.275G>A p.G92D missense 0.00004562●●●●●●
53. 39925872 c.266T>C p.M89T missense 0.00004535●●●●●●
54. 39914006 c.1804C>T p.R602C missense 0.00004351●●●●●●
55. 39925350 c.578T>C p.M193T missense 0.00004344●●●●●●
56. 39925360 c.568G>A p.V190M missense 0.00004317●●●●●●
57. 39925453 c.475G>T p.V159L missense 0.00004237●●●●●●
58. 39925782 c.356C>T p.P119L missense 0.00004155●●●●●●
59. 39927998 c.109G>A p.V37I missense 0.00004133●●●●●●
60. 39927946 c.161C>T p.T54M missense 0.00004126●●●●●●
61. 39919332 c.1400C>T p.P467L missense 0.00004121●●●●●●
62. 39919408 c.1324A>T p.I442F missense 0.00004120●●●●●●
63. 39921270 c.959G>A p.R320H missense 0.00004119●●●●●●
64. 39925246 c.682A>G p.I228V missense 0.00003940●●●●●●
65. 39925320 c.608G>A p.R203H missense 0.00003684●●●●●●
66. 39925333 c.595C>G p.L199V missense 0.00003565●●●●●●
67. 39925383 c.545C>T p.S182L missense 0.00003457●●●●●●
68. 39925852 c.286G>A p.E96K missense 0.00003453●●●●●●
69. 39925438 c.490A>G p.M164V missense 0.00003381●●●●●●
70. 39925419 c.509C>T p.S170L missense 0.00003377●●●●●●
71. 39925885 c.253G>C p.V85L missense 0.00003357●●●●●●
72. 39925887 c.251G>A p.R84Q missense 0.00003346●●●●●●
73. 39912112 c.2122G>A p.D708N missense 0.00003342●●●●●●
74. 39923762 c.778G>A p.A260T missense 0.00003303●●●●●●
75. 39920993 c.1130G>A p.R377H missense 0.00003301●●●●●●
76. 39919302 c.1430G>A p.R477H missense 0.00003297●●●●●●
77. 39921303 c.926A>G p.N309S missense 0.00003297●●●●●●
78. 39919401 c.1331G>A p.R444H missense 0.00003296●●●●●●
79. 39913780 c.1933G>A p.A645T missense 0.00003296●●●●●●
80. 39915043 c.1577G>A p.R526H missense 0.00003265●●●●●●
81. 39925786 c.352G>A p.E118K missense 0.00003174●●●●●●
82. 39925927 c.211G>T p.D71Y missense 0.00003051●●●●●●
83. 39925231 c.697C>T p.R233C missense 0.00002873●●●●●●
84. 39925304 c.624C>G p.I208M missense 0.00002871●●●●●●
85. 39914026 c.1784C>T p.S595L missense 0.00002649●●●●●●
86. 39913901 c.1909C>T p.R637C missense 0.00002588●●●●●●
87. 39915002 c.1618C>T p.R540C missense 0.00002578●●●●●●
88. 39925398 c.530G>A p.R177Q missense 0.00002568●●●●●●
89. 39912435 c.2078A>G p.Y693C missense 0.00002563●●●●●●
90. 39912130 c.2104C>T p.R702C missense 0.00002510●●●●●●
91. 39912089 c.2145G>C p.E715D missense 0.00002507●●●●●●
92. 39912106 c.2128C>T p.P710S missense 0.00002505●●●●●●
93. 39927910 c.197C>T p.P66L missense 0.00002479●●●●●●
94. 39920994 c.1129C>A p.R377S missense 0.00002476●●●●●●
95. 39923731 c.809T>A p.L270Q missense 0.00002475●●●●●●
96. 39923722 c.818T>C p.M273T missense 0.00002474●●●●●●
97. 39923707 c.833A>G p.N278S missense 0.00002474●●●●●●
98. 39921229 c.1000G>A p.V334M missense 0.00002472●●●●●●
99. 39919513 c.1219G>A p.V407I missense 0.00002472●●●●●●
100. 39921262 c.967A>G p.S323G missense 0.00002471●●●●●●
101. 39925671 c.467C>T p.P156L missense 0.00002240●●●●●●
102. 39925794 c.344G>A p.R115Q missense 0.00002152●●●●●●
103. 39915044 c.1576C>T p.R526C missense 0.00002146●●●●●●
104. 39925920 c.218A>C p.E73A missense 0.00002107●●●●●●
105. 39925702 c.436G>A p.E146K missense 0.00001974●●●●●●
106. 39925295 c.633C>A p.N211K missense 0.00001965●●●●●●
107. 39925726 c.412G>A p.E138K missense 0.00001927●●●●●●
108. 39925732 c.406G>A p.D136N missense 0.00001919●●●●●●
109. 39914003 c.1807G>A p.V603M missense 0.00001738●●●●●●
110. 39925356 c.572G>A p.R191H missense 0.00001732●●●●●●
111. 39925360 c.568G>T p.V190L missense 0.00001727●●●●●●
112. 39913934 c.1876G>A p.A626T missense 0.00001724●●●●●●
113. 39914757 c.1667T>C p.M556T missense 0.00001702●●●●●●
114. 39925404 c.524C>T p.S175L missense 0.00001699●●●●●●
115. 39925408 c.520G>A p.A174T missense 0.00001694●●●●●●
116. 39912043 c.2191G>A p.D731N missense 0.00001692●●●●●●
117. 39912096 c.2138C>T p.P713L missense 0.00001671●●●●●●
118. 39914709 c.1715G>A p.R572Q missense 0.00001656●●●●●●
119. 39914671 c.1753A>G p.T585A missense 0.00001654●●●●●●
120. 39927992 c.115A>G p.S39G missense 0.00001652●●●●●●
121. 39923650 c.890A>G p.Y297C missense 0.00001651●●●●●●
122. 39923644 c.896A>G p.N299S missense 0.00001651●●●●●●
123. 39923671 c.869A>C p.D290A missense 0.00001650●●●●●●
124. 39919277 c.1455C>G p.I485M missense 0.00001650●●●●●●
125. 39923713 c.827T>G p.L276R missense 0.00001649●●●●●●
126. 39919354 c.1378C>T p.R460C missense 0.00001649●●●●●●
127. 39921259 c.970T>A p.Y324N missense 0.00001648●●●●●●
128. 39919402 c.1330C>T p.R444C missense 0.00001648●●●●●●
129. 39919497 c.1235C>T p.T412M missense 0.00001648●●●●●●
130. 39919339 c.1393C>T p.R465C missense 0.00001648●●●●●●
131. 39919510 c.1222C>T p.L408F missense 0.00001648●●●●●●
132. 39921190 c.1039G>A p.A347T missense 0.00001648●●●●●●
133. 39919515 c.1217A>G p.N406S missense 0.00001648●●●●●●
134. 39919396 c.1336G>T p.G446C missense 0.00001648●●●●●●
135. 39913761 c.1952G>A p.R651H missense 0.00001648●●●●●●
136. 39919399 c.1333G>C p.A445P missense 0.00001648●●●●●●
137. 39913683 c.2030C>T p.P677L missense 0.00001647●●●●●●
138. 39913689 c.2024A>G p.H675R missense 0.00001647●●●●●●
139. 39925221 c.707G>A p.S236N missense 0.00001542●●●●●●
140. 39925236 c.692T>C p.L231P missense 0.00001380●●●●●●
141. 39914978 c.1642C>G p.Q548E missense 0.00001377●●●●●●
142. 39914986 c.1634G>A p.G545D missense 0.00001358●●●●●●
143. 39914989 c.1631C>T p.A544V missense 0.00001348●●●●●●
144. 39914996 c.1624G>A p.V542I missense 0.00001318●●●●●●
145. 39914998 c.1622A>C p.H541P missense 0.00001305●●●●●●
146. 39925254 c.674C>T p.S225L missense 0.00001247●●●●●●
147. 39925257 c.671A>T p.K224M missense 0.00001222●●●●●●
148. 39915014 c.1606C>G p.Q536E missense 0.00001221●●●●●●
149. 39928101 c.6G>T p.E2D missense 0.00001154●●●●●●
150. 39925848 c.290A>T p.D97V missense 0.00001147●●●●●●
151. 39925864 c.274G>T p.G92C missense 0.00001142●●●●●●
152. 39925876 c.262G>A p.A88T missense 0.00001135●●●●●●
153. 39925875 c.263C>G p.A88G missense 0.00001134●●●●●●
154. 39925875 c.263C>A p.A88D missense 0.00001134●●●●●●
155. 39925881 c.257G>C p.R86P missense 0.00001128●●●●●●
156. 39925272 c.656T>C p.L219P missense 0.00001127●●●●●●
157. 39925273 c.655C>A p.L219M missense 0.00001125●●●●●●
158. 39925885 c.253G>A p.V85M missense 0.00001119●●●●●●
159. 39925888 c.250C>T p.R84W missense 0.00001114●●●●●●
160. 39928095 c.12G>T p.M4I missense 0.00001113●●●●●●
161. 39915043 c.1577G>T p.R526L missense 0.00001088●●●●●●
162. 39925281 c.647G>A p.R216Q missense 0.00001078●●●●●●
163. 39925678 c.460G>A p.E154K missense 0.00001075●●●●●●
164. 39925908 c.230C>T p.S77F missense 0.00001070●●●●●●
165. 39925910 c.228G>A p.M76I missense 0.00001067●●●●●●
166. 39925911 c.227T>G p.M76R missense 0.00001064●●●●●●
167. 39925679 c.459C>A p.D153E missense 0.00001063●●●●●●
168. 39925912 c.226A>C p.M76L missense 0.00001063●●●●●●
169. 39925681 c.457G>A p.D153N missense 0.00001049●●●●●●
170. 39925285 c.643C>T p.H215Y missense 0.00001040●●●●●●
171. 39925682 c.456C>G p.N152K missense 0.00001040●●●●●●
172. 39928087 c.20T>C p.M7T missense 0.00001035●●●●●●
173. 39925774 c.364C>A p.L122M missense 0.00001006●●●●●●
174. 39925294 c.634C>G p.L212V missense 0.00000987●●●●●●
175. 39925764 c.374C>T p.S125L missense 0.00000981●●●●●●
176. 39925705 c.433C>T p.P145S missense 0.00000980●●●●●●
177. 39925724 c.414G>C p.E138D missense 0.00000962●●●●●●
178. 39928076 c.31A>G p.I11V missense 0.00000945●●●●●●
179. 39915092 c.1528C>G p.L510V missense 0.00000945●●●●●●
180. 39915094 c.1526C>A p.A509D missense 0.00000945●●●●●●
181. 39925925 c.213T>A p.D71E missense 0.00000935●●●●●●
182. 39925323 c.605C>G p.A202G missense 0.00000910●●●●●●
183. 39928067 c.40A>C p.T14P missense 0.00000904●●●●●●
184. 39928066 c.41C>T p.T14I missense 0.00000900●●●●●●
185. 39925327 c.601A>G p.T201A missense 0.00000900●●●●●●
186. 39925336 c.592G>A p.D198N missense 0.00000888●●●●●●
187. 39925337 c.591C>A p.S197R missense 0.00000885●●●●●●
188. 39913999 c.1811C>A p.A604D missense 0.00000868●●●●●●
189. 39925351 c.577A>G p.M193V missense 0.00000868●●●●●●
190. 39925356 c.572G>T p.R191L missense 0.00000866●●●●●●
191. 39925357 c.571C>T p.R191C missense 0.00000865●●●●●●
192. 39925380 c.548C>T p.P183L missense 0.00000863●●●●●●
193. 39925360 c.568G>C p.V190L missense 0.00000863●●●●●●
194. 39913909 c.1901T>C p.L634P missense 0.00000862●●●●●●
195. 39913942 c.1868C>G p.A623G missense 0.00000862●●●●●●
196. 39913906 c.1904A>G p.H635R missense 0.00000862●●●●●●
197. 39925366 c.562G>A p.A188T missense 0.00000861●●●●●●
198. 39914766 c.1658G>A p.G553D missense 0.00000859●●●●●●
199. 39912429 c.2084A>G p.D695G missense 0.00000857●●●●●●
200. 39912439 c.2074C>T p.P692S missense 0.00000853●●●●●●
201. 39912442 c.2071G>A p.E691K missense 0.00000851●●●●●●
202. 39912040 c.2194G>A p.G732S missense 0.00000849●●●●●●
203. 39928036 c.71C>T p.S24L missense 0.00000849●●●●●●
204. 39925435 c.493A>G p.I165V missense 0.00000845●●●●●●
205. 39925443 c.485C>T p.A162V missense 0.00000845●●●●●●
206. 39925414 c.514A>G p.K172E missense 0.00000845●●●●●●
207. 39925441 c.487G>A p.A163T missense 0.00000845●●●●●●
208. 39912045 c.2189G>A p.S730N missense 0.00000844●●●●●●
209. 39923818 c.722C>T p.S241L missense 0.00000841●●●●●●
210. 39912139 c.2095G>T p.A699S missense 0.00000838●●●●●●
211. 39914736 c.1688G>A p.C563Y missense 0.00000837●●●●●●
212. 39912076 c.2158A>G p.M720V missense 0.00000836●●●●●●
213. 39912102 c.2132T>C p.L711P missense 0.00000835●●●●●●
214. 39928022 c.85G>A p.G29S missense 0.00000832●●●●●●
215. 39928019 c.88G>A p.A30T missense 0.00000831●●●●●●
216. 39919237 c.1495A>C p.K499Q missense 0.00000830●●●●●●
217. 39923801 c.739A>G p.I247V missense 0.00000829●●●●●●
218. 39914719 c.1705A>T p.I569F missense 0.00000829●●●●●●
219. 39914710 c.1714C>T p.R572W missense 0.00000828●●●●●●
220. 39923794 c.746C>T p.T249M missense 0.00000828●●●●●●
221. 39914664 c.1760C>T p.P587L missense 0.00000827●●●●●●
222. 39928004 c.103C>A p.P35T missense 0.00000827●●●●●●
223. 39919558 c.1174G>A p.V392M missense 0.00000827●●●●●●
224. 39919254 c.1478A>G p.N493S missense 0.00000827●●●●●●
225. 39928007 c.100G>A p.V34M missense 0.00000827●●●●●●
226. 39914680 c.1744C>T p.R582W missense 0.00000827●●●●●●
227. 39923758 c.782A>G p.K261R missense 0.00000826●●●●●●
228. 39923635 c.905G>A p.S302N missense 0.00000826●●●●●●
229. 39923638 c.902A>G p.E301G missense 0.00000826●●●●●●
230. 39923639 c.901G>C p.E301Q missense 0.00000826●●●●●●
231. 39927993 c.114C>A p.S38R missense 0.00000826●●●●●●
232. 39923746 c.794G>A p.R265H missense 0.00000825●●●●●●
233. 39919276 c.1456G>A p.V486M missense 0.00000825●●●●●●
234. 39921023 c.1100G>A p.R367H missense 0.00000825●●●●●●
235. 39927947 c.160A>G p.T54A missense 0.00000825●●●●●●
236. 39921003 c.1120T>G p.W374G missense 0.00000825●●●●●●
237. 39927941 c.166A>G p.K56E missense 0.00000825●●●●●●
238. 39927959 c.148G>A p.G50R missense 0.00000825●●●●●●
239. 39927982 c.125T>A p.I42N missense 0.00000825●●●●●●
240. 39927956 c.151C>T p.R51C missense 0.00000825●●●●●●
241. 39927955 c.152G>A p.R51H missense 0.00000825●●●●●●
242. 39921027 c.1096C>A p.P366T missense 0.00000825●●●●●●
243. 39927946 c.161C>A p.T54K missense 0.00000825●●●●●●
244. 39923710 c.830T>G p.L277R missense 0.00000825●●●●●●
245. 39923698 c.842A>G p.N281S missense 0.00000825●●●●●●
246. 39927961 c.146G>A p.C49Y missense 0.00000825●●●●●●
247. 39919267 c.1465C>T p.L489F missense 0.00000825●●●●●●
248. 39921010 c.1113C>A p.N371K missense 0.00000825●●●●●●
249. 39921050 c.1073G>A p.G358D missense 0.00000825●●●●●●
250. 39923747 c.793C>T p.R265C missense 0.00000825●●●●●●
251. 39923710 c.830T>C p.L277P missense 0.00000825●●●●●●
252. 39927971 c.136G>A p.D46N missense 0.00000825●●●●●●
253. 39921181 c.1048G>C p.E350Q missense 0.00000824●●●●●●
254. 39919476 c.1256C>T p.T419I missense 0.00000824●●●●●●
255. 39919443 c.1289C>A p.T430K missense 0.00000824●●●●●●
256. 39921315 c.914T>C p.I305T missense 0.00000824●●●●●●
257. 39921232 c.997C>T p.R333C missense 0.00000824●●●●●●
258. 39921231 c.998G>A p.R333H missense 0.00000824●●●●●●
259. 39913726 c.1987C>T p.R663C missense 0.00000824●●●●●●
260. 39921277 c.952A>G p.I318V missense 0.00000824●●●●●●
261. 39921183 c.1046T>C p.V349A missense 0.00000824●●●●●●
262. 39919470 c.1262A>G p.N421S missense 0.00000824●●●●●●
263. 39919384 c.1348G>A p.D450N missense 0.00000824●●●●●●
264. 39921283 c.946G>A p.V316M missense 0.00000824●●●●●●
265. 39913717 c.1996G>T p.V666L missense 0.00000824●●●●●●
266. 39921240 c.989C>A p.T330N missense 0.00000824●●●●●●
267. 39919413 c.1319A>G p.H440R missense 0.00000824●●●●●●
268. 39921278 c.951G>C p.Q317H missense 0.00000824●●●●●●
269. 39919389 c.1343A>G p.K448R missense 0.00000824●●●●●●
270. 39919372 c.1360C>T p.P454S missense 0.00000824●●●●●●
271. 39913717 c.1996G>A p.V666M missense 0.00000824●●●●●●
272. 39919293 c.1439A>G p.Y480C missense 0.00000824●●●●●●
273. 39921265 c.964T>C p.Y322H missense 0.00000824●●●●●●
274. 39921256 c.973G>A p.E325K missense 0.00000824●●●●●●
275. 39919474 c.1258T>C p.C420R missense 0.00000824●●●●●●
276. 39919424 c.1308G>T p.E436D missense 0.00000824●●●●●●
277. 39919348 c.1384C>T p.L462F missense 0.00000824●●●●●●
278. 39913681 c.2032G>A p.A678T missense 0.00000824●●●●●●
279. 39919338 c.1394G>A p.R465H missense 0.00000824●●●●●●
280. 39921279 c.950A>T p.Q317L missense 0.00000824●●●●●●
281. 39921302 c.927T>A p.N309K missense 0.00000824●●●●●●
282. 39921193 c.1036C>T p.P346S missense 0.00000824●●●●●●
283. 39913737 c.1976A>G p.D659G missense 0.00000824●●●●●●
284. 39913723 c.1990G>A p.V664M 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.