JUP non-truncating variants in ExAC

JUP gene summary
JUP variants in DCM

The table below lists the JUP non-truncating 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. 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. 39919401 c.1331G>A p.R444H missense 0.00003296●●●●●●
62. 39913780 c.1933G>A p.A645T 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. 39923722 c.818T>C p.M273T missense 0.00002474●●●●●●
80. 39923707 c.833A>G p.N278S 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. 39925794 c.344G>A p.R115Q missense 0.00002152●●●●●●
86. 39915044 c.1576C>T p.R526C missense 0.00002146●●●●●●
87. 39925920 c.218A>C p.E73A missense 0.00002107●●●●●●
88. 39925702 c.436G>A p.E146K missense 0.00001974●●●●●●
89. 39925295 c.633C>A p.N211K missense 0.00001965●●●●●●
90. 39925726 c.412G>A p.E138K missense 0.00001927●●●●●●
91. 39925732 c.406G>A p.D136N missense 0.00001919●●●●●●
92. 39914003 c.1807G>A p.V603M missense 0.00001738●●●●●●
93. 39925356 c.572G>A p.R191H missense 0.00001732●●●●●●
94. 39925360 c.568G>T p.V190L missense 0.00001727●●●●●●
95. 39913934 c.1876G>A p.A626T missense 0.00001724●●●●●●
96. 39914757 c.1667T>C p.M556T missense 0.00001702●●●●●●
97. 39925404 c.524C>T p.S175L missense 0.00001699●●●●●●
98. 39925408 c.520G>A p.A174T missense 0.00001694●●●●●●
99. 39912043 c.2191G>A p.D731N missense 0.00001692●●●●●●
100. 39912096 c.2138C>T p.P713L missense 0.00001671●●●●●●
101. 39914709 c.1715G>A p.R572Q missense 0.00001656●●●●●●
102. 39914671 c.1753A>G p.T585A missense 0.00001654●●●●●●
103. 39927992 c.115A>G p.S39G missense 0.00001652●●●●●●
104. 39923644 c.896A>G p.N299S missense 0.00001651●●●●●●
105. 39923650 c.890A>G p.Y297C missense 0.00001651●●●●●●
106. 39919277 c.1455C>G p.I485M missense 0.00001650●●●●●●
107. 39923671 c.869A>C p.D290A missense 0.00001650●●●●●●
108. 39919354 c.1378C>T p.R460C missense 0.00001649●●●●●●
109. 39923713 c.827T>G p.L276R missense 0.00001649●●●●●●
110. 39919399 c.1333G>C p.A445P missense 0.00001648●●●●●●
111. 39921190 c.1039G>A p.A347T missense 0.00001648●●●●●●
112. 39919402 c.1330C>T p.R444C missense 0.00001648●●●●●●
113. 39919497 c.1235C>T p.T412M missense 0.00001648●●●●●●
114. 39919339 c.1393C>T p.R465C missense 0.00001648●●●●●●
115. 39919510 c.1222C>T p.L408F missense 0.00001648●●●●●●
116. 39921259 c.970T>A p.Y324N missense 0.00001648●●●●●●
117. 39919515 c.1217A>G p.N406S missense 0.00001648●●●●●●
118. 39919396 c.1336G>T p.G446C missense 0.00001648●●●●●●
119. 39913761 c.1952G>A p.R651H missense 0.00001648●●●●●●
120. 39913683 c.2030C>T p.P677L missense 0.00001647●●●●●●
121. 39913689 c.2024A>G p.H675R missense 0.00001647●●●●●●
122. 39925221 c.707G>A p.S236N missense 0.00001542●●●●●●
123. 39925236 c.692T>C p.L231P missense 0.00001380●●●●●●
124. 39914978 c.1642C>G p.Q548E missense 0.00001377●●●●●●
125. 39914986 c.1634G>A p.G545D missense 0.00001358●●●●●●
126. 39914989 c.1631C>T p.A544V missense 0.00001348●●●●●●
127. 39914996 c.1624G>A p.V542I missense 0.00001318●●●●●●
128. 39914998 c.1622A>C p.H541P missense 0.00001305●●●●●●
129. 39925254 c.674C>T p.S225L missense 0.00001247●●●●●●
130. 39925257 c.671A>T p.K224M missense 0.00001222●●●●●●
131. 39915014 c.1606C>G p.Q536E missense 0.00001221●●●●●●
132. 39928101 c.6G>T p.E2D missense 0.00001154●●●●●●
133. 39925848 c.290A>T p.D97V missense 0.00001147●●●●●●
134. 39925864 c.274G>T p.G92C missense 0.00001142●●●●●●
135. 39925876 c.262G>A p.A88T missense 0.00001135●●●●●●
136. 39925875 c.263C>A p.A88D missense 0.00001134●●●●●●
137. 39925875 c.263C>G p.A88G missense 0.00001134●●●●●●
138. 39925881 c.257G>C p.R86P missense 0.00001128●●●●●●
139. 39925272 c.656T>C p.L219P missense 0.00001127●●●●●●
140. 39925273 c.655C>A p.L219M missense 0.00001125●●●●●●
141. 39925885 c.253G>A p.V85M missense 0.00001119●●●●●●
142. 39925888 c.250C>T p.R84W missense 0.00001114●●●●●●
143. 39928095 c.12G>T p.M4I missense 0.00001113●●●●●●
144. 39915043 c.1577G>T p.R526L missense 0.00001088●●●●●●
145. 39925281 c.647G>A p.R216Q missense 0.00001078●●●●●●
146. 39925678 c.460G>A p.E154K missense 0.00001075●●●●●●
147. 39925908 c.230C>T p.S77F missense 0.00001070●●●●●●
148. 39925910 c.228G>A p.M76I missense 0.00001067●●●●●●
149. 39925911 c.227T>G p.M76R missense 0.00001064●●●●●●
150. 39925912 c.226A>C p.M76L missense 0.00001063●●●●●●
151. 39925679 c.459C>A p.D153E missense 0.00001063●●●●●●
152. 39925681 c.457G>A p.D153N missense 0.00001049●●●●●●
153. 39925285 c.643C>T p.H215Y missense 0.00001040●●●●●●
154. 39925682 c.456C>G p.N152K missense 0.00001040●●●●●●
155. 39928087 c.20T>C p.M7T missense 0.00001035●●●●●●
156. 39925774 c.364C>A p.L122M missense 0.00001006●●●●●●
157. 39925294 c.634C>G p.L212V missense 0.00000987●●●●●●
158. 39925764 c.374C>T p.S125L missense 0.00000981●●●●●●
159. 39925705 c.433C>T p.P145S missense 0.00000980●●●●●●
160. 39925724 c.414G>C p.E138D missense 0.00000962●●●●●●
161. 39915094 c.1526C>A p.A509D missense 0.00000945●●●●●●
162. 39928076 c.31A>G p.I11V missense 0.00000945●●●●●●
163. 39915092 c.1528C>G p.L510V missense 0.00000945●●●●●●
164. 39925925 c.213T>A p.D71E missense 0.00000935●●●●●●
165. 39925323 c.605C>G p.A202G missense 0.00000910●●●●●●
166. 39928067 c.40A>C p.T14P missense 0.00000904●●●●●●
167. 39928066 c.41C>T p.T14I missense 0.00000900●●●●●●
168. 39925327 c.601A>G p.T201A missense 0.00000900●●●●●●
169. 39925336 c.592G>A p.D198N missense 0.00000888●●●●●●
170. 39925337 c.591C>A p.S197R missense 0.00000885●●●●●●
171. 39928052 c.55_56insGGC p.Thr19delinsArgPro inframe 0.00000876●●●●●●
172. 39913999 c.1811C>A p.A604D missense 0.00000868●●●●●●
173. 39925351 c.577A>G p.M193V missense 0.00000868●●●●●●
174. 39925356 c.572G>T p.R191L missense 0.00000866●●●●●●
175. 39925357 c.571C>T p.R191C missense 0.00000865●●●●●●
176. 39925360 c.568G>C p.V190L missense 0.00000863●●●●●●
177. 39925380 c.548C>T p.P183L missense 0.00000863●●●●●●
178. 39913906 c.1904A>G p.H635R missense 0.00000862●●●●●●
179. 39913909 c.1901T>C p.L634P missense 0.00000862●●●●●●
180. 39913942 c.1868C>G p.A623G missense 0.00000862●●●●●●
181. 39925366 c.562G>A p.A188T missense 0.00000861●●●●●●
182. 39914766 c.1658G>A p.G553D missense 0.00000859●●●●●●
183. 39912429 c.2084A>G p.D695G missense 0.00000857●●●●●●
184. 39912439 c.2074C>T p.P692S missense 0.00000853●●●●●●
185. 39912442 c.2071G>A p.E691K missense 0.00000851●●●●●●
186. 39928036 c.71C>T p.S24L missense 0.00000849●●●●●●
187. 39912040 c.2194G>A p.G732S missense 0.00000849●●●●●●
188. 39925441 c.487G>A p.A163T missense 0.00000845●●●●●●
189. 39925443 c.485C>T p.A162V missense 0.00000845●●●●●●
190. 39925435 c.493A>G p.I165V missense 0.00000845●●●●●●
191. 39925414 c.514A>G p.K172E missense 0.00000845●●●●●●
192. 39912045 c.2189G>A p.S730N missense 0.00000844●●●●●●
193. 39923818 c.722C>T p.S241L missense 0.00000841●●●●●●
194. 39912139 c.2095G>T p.A699S missense 0.00000838●●●●●●
195. 39912077 c.2157_2162dupCATGGA p.Met720_Asp721dup inframe 0.00000837●●●●●●
196. 39914736 c.1688G>A p.C563Y missense 0.00000837●●●●●●
197. 39912076 c.2158A>G p.M720V missense 0.00000836●●●●●●
198. 39912102 c.2132T>C p.L711P missense 0.00000835●●●●●●
199. 39928022 c.85G>A p.G29S missense 0.00000832●●●●●●
200. 39928019 c.88G>A p.A30T missense 0.00000831●●●●●●
201. 39919237 c.1495A>C p.K499Q missense 0.00000830●●●●●●
202. 39914719 c.1705A>T p.I569F missense 0.00000829●●●●●●
203. 39923801 c.739A>G p.I247V missense 0.00000829●●●●●●
204. 39914710 c.1714C>T p.R572W missense 0.00000828●●●●●●
205. 39923794 c.746C>T p.T249M missense 0.00000828●●●●●●
206. 39919558 c.1174G>A p.V392M missense 0.00000827●●●●●●
207. 39914680 c.1744C>T p.R582W missense 0.00000827●●●●●●
208. 39914664 c.1760C>T p.P587L missense 0.00000827●●●●●●
209. 39928004 c.103C>A p.P35T missense 0.00000827●●●●●●
210. 39919254 c.1478A>G p.N493S missense 0.00000827●●●●●●
211. 39928007 c.100G>A p.V34M missense 0.00000827●●●●●●
212. 39923639 c.901G>C p.E301Q missense 0.00000826●●●●●●
213. 39923638 c.902A>G p.E301G missense 0.00000826●●●●●●
214. 39927993 c.114C>A p.S38R missense 0.00000826●●●●●●
215. 39927991 c.116_118delGCA p.Ser39del inframe 0.00000826●●●●●●
216. 39923758 c.782A>G p.K261R missense 0.00000826●●●●●●
217. 39923635 c.905G>A p.S302N missense 0.00000826●●●●●●
218. 39919267 c.1465C>T p.L489F missense 0.00000825●●●●●●
219. 39923698 c.842A>G p.N281S missense 0.00000825●●●●●●
220. 39921027 c.1096C>A p.P366T missense 0.00000825●●●●●●
221. 39923710 c.830T>G p.L277R missense 0.00000825●●●●●●
222. 39927955 c.152G>A p.R51H missense 0.00000825●●●●●●
223. 39921003 c.1120T>G p.W374G missense 0.00000825●●●●●●
224. 39919276 c.1456G>A p.V486M missense 0.00000825●●●●●●
225. 39921050 c.1073G>A p.G358D missense 0.00000825●●●●●●
226. 39927971 c.136G>A p.D46N missense 0.00000825●●●●●●
227. 39927947 c.160A>G p.T54A missense 0.00000825●●●●●●
228. 39923747 c.793C>T p.R265C missense 0.00000825●●●●●●
229. 39927959 c.148G>A p.G50R missense 0.00000825●●●●●●
230. 39921010 c.1113C>A p.N371K missense 0.00000825●●●●●●
231. 39927941 c.166A>G p.K56E missense 0.00000825●●●●●●
232. 39923710 c.830T>C p.L277P missense 0.00000825●●●●●●
233. 39927956 c.151C>T p.R51C missense 0.00000825●●●●●●
234. 39927982 c.125T>A p.I42N missense 0.00000825●●●●●●
235. 39921023 c.1100G>A p.R367H missense 0.00000825●●●●●●
236. 39923746 c.794G>A p.R265H missense 0.00000825●●●●●●
237. 39927946 c.161C>A p.T54K missense 0.00000825●●●●●●
238. 39927961 c.146G>A p.C49Y missense 0.00000825●●●●●●
239. 39919384 c.1348_1350delGAC p.Asp450del inframe 0.00000824●●●●●●
240. 39919424 c.1308G>T p.E436D missense 0.00000824●●●●●●
241. 39919348 c.1384C>T p.L462F missense 0.00000824●●●●●●
242. 39919338 c.1394G>A p.R465H missense 0.00000824●●●●●●
243. 39921283 c.946G>A p.V316M missense 0.00000824●●●●●●
244. 39921278 c.951G>C p.Q317H missense 0.00000824●●●●●●
245. 39919389 c.1343A>G p.K448R missense 0.00000824●●●●●●
246. 39921240 c.989C>A p.T330N missense 0.00000824●●●●●●
247. 39919476 c.1256C>T p.T419I missense 0.00000824●●●●●●
248. 39913717 c.1996G>A p.V666M missense 0.00000824●●●●●●
249. 39913681 c.2032G>A p.A678T missense 0.00000824●●●●●●
250. 39921265 c.964T>C p.Y322H missense 0.00000824●●●●●●
251. 39913737 c.1976A>G p.D659G missense 0.00000824●●●●●●
252. 39919443 c.1289C>A p.T430K missense 0.00000824●●●●●●
253. 39921279 c.950A>T p.Q317L missense 0.00000824●●●●●●
254. 39921193 c.1036C>T p.P346S missense 0.00000824●●●●●●
255. 39921302 c.927T>A p.N309K missense 0.00000824●●●●●●
256. 39921256 c.973G>A p.E325K missense 0.00000824●●●●●●
257. 39921231 c.998G>A p.R333H missense 0.00000824●●●●●●
258. 39919384 c.1348G>A p.D450N missense 0.00000824●●●●●●
259. 39913723 c.1990G>A p.V664M missense 0.00000824●●●●●●
260. 39921181 c.1048G>C p.E350Q missense 0.00000824●●●●●●
261. 39919470 c.1262A>G p.N421S missense 0.00000824●●●●●●
262. 39921315 c.914T>C p.I305T missense 0.00000824●●●●●●
263. 39921232 c.997C>T p.R333C missense 0.00000824●●●●●●
264. 39919413 c.1319A>G p.H440R missense 0.00000824●●●●●●
265. 39913726 c.1987C>T p.R663C missense 0.00000824●●●●●●
266. 39919293 c.1439A>G p.Y480C missense 0.00000824●●●●●●
267. 39913717 c.1996G>T p.V666L missense 0.00000824●●●●●●
268. 39921277 c.952A>G p.I318V missense 0.00000824●●●●●●
269. 39921183 c.1046T>C p.V349A missense 0.00000824●●●●●●
270. 39919474 c.1258T>C p.C420R missense 0.00000824●●●●●●
271. 39919372 c.1360C>T p.P454S 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.