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. 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. 39919302 c.1430G>A p.R477H missense 0.00003297●●●●●●
60. 39921303 c.926A>G p.N309S 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. 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. 39923713 c.827T>G p.L276R missense 0.00001649●●●●●●
112. 39919354 c.1378C>T p.R460C missense 0.00001649●●●●●●
113. 39919339 c.1393C>T p.R465C missense 0.00001648●●●●●●
114. 39921259 c.970T>A p.Y324N missense 0.00001648●●●●●●
115. 39919399 c.1333G>C p.A445P missense 0.00001648●●●●●●
116. 39919510 c.1222C>T p.L408F missense 0.00001648●●●●●●
117. 39921190 c.1039G>A p.A347T missense 0.00001648●●●●●●
118. 39919497 c.1235C>T p.T412M missense 0.00001648●●●●●●
119. 39919402 c.1330C>T p.R444C missense 0.00001648●●●●●●
120. 39913761 c.1952G>A p.R651H missense 0.00001648●●●●●●
121. 39919515 c.1217A>G p.N406S missense 0.00001648●●●●●●
122. 39919396 c.1336G>T p.G446C missense 0.00001648●●●●●●
123. 39913689 c.2024A>G p.H675R missense 0.00001647●●●●●●
124. 39913683 c.2030C>T p.P677L 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. 39915094 c.1526C>A p.A509D missense 0.00000945●●●●●●
165. 39915092 c.1528C>G p.L510V missense 0.00000945●●●●●●
166. 39928076 c.31A>G p.I11V 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. 39928066 c.41C>T p.T14I missense 0.00000900●●●●●●
171. 39925327 c.601A>G p.T201A 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. 39913999 c.1811C>A p.A604D missense 0.00000868●●●●●●
177. 39925351 c.577A>G p.M193V 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. 39913906 c.1904A>G p.H635R missense 0.00000862●●●●●●
183. 39913909 c.1901T>C p.L634P missense 0.00000862●●●●●●
184. 39913942 c.1868C>G p.A623G 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. 39928036 c.71C>T p.S24L missense 0.00000849●●●●●●
191. 39912040 c.2194G>A p.G732S missense 0.00000849●●●●●●
192. 39925443 c.485C>T p.A162V missense 0.00000845●●●●●●
193. 39925414 c.514A>G p.K172E missense 0.00000845●●●●●●
194. 39925441 c.487G>A p.A163T missense 0.00000845●●●●●●
195. 39925435 c.493A>G p.I165V 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. 39912077 c.2157_2162dupCATGGA p.Met720_Asp721dup inframe 0.00000837●●●●●●
200. 39914736 c.1688G>A p.C563Y missense 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. 39914680 c.1744C>T p.R582W missense 0.00000827●●●●●●
211. 39919558 c.1174G>A p.V392M missense 0.00000827●●●●●●
212. 39928004 c.103C>A p.P35T missense 0.00000827●●●●●●
213. 39914664 c.1760C>T p.P587L missense 0.00000827●●●●●●
214. 39919254 c.1478A>G p.N493S missense 0.00000827●●●●●●
215. 39928007 c.100G>A p.V34M missense 0.00000827●●●●●●
216. 39923758 c.782A>G p.K261R missense 0.00000826●●●●●●
217. 39927993 c.114C>A p.S38R missense 0.00000826●●●●●●
218. 39927991 c.116_118delGCA p.Ser39del inframe 0.00000826●●●●●●
219. 39923639 c.901G>C p.E301Q missense 0.00000826●●●●●●
220. 39923635 c.905G>A p.S302N missense 0.00000826●●●●●●
221. 39923638 c.902A>G p.E301G missense 0.00000826●●●●●●
222. 39927955 c.152G>A p.R51H missense 0.00000825●●●●●●
223. 39923710 c.830T>C p.L277P missense 0.00000825●●●●●●
224. 39927961 c.146G>A p.C49Y missense 0.00000825●●●●●●
225. 39921003 c.1120T>G p.W374G missense 0.00000825●●●●●●
226. 39919267 c.1465C>T p.L489F missense 0.00000825●●●●●●
227. 39923698 c.842A>G p.N281S missense 0.00000825●●●●●●
228. 39921023 c.1100G>A p.R367H missense 0.00000825●●●●●●
229. 39927971 c.136G>A p.D46N missense 0.00000825●●●●●●
230. 39919276 c.1456G>A p.V486M missense 0.00000825●●●●●●
231. 39921027 c.1096C>A p.P366T missense 0.00000825●●●●●●
232. 39927947 c.160A>G p.T54A missense 0.00000825●●●●●●
233. 39927941 c.166A>G p.K56E missense 0.00000825●●●●●●
234. 39927982 c.125T>A p.I42N missense 0.00000825●●●●●●
235. 39921010 c.1113C>A p.N371K missense 0.00000825●●●●●●
236. 39923746 c.794G>A p.R265H missense 0.00000825●●●●●●
237. 39923710 c.830T>G p.L277R missense 0.00000825●●●●●●
238. 39921050 c.1073G>A p.G358D missense 0.00000825●●●●●●
239. 39927956 c.151C>T p.R51C missense 0.00000825●●●●●●
240. 39927946 c.161C>A p.T54K missense 0.00000825●●●●●●
241. 39927959 c.148G>A p.G50R missense 0.00000825●●●●●●
242. 39923747 c.793C>T p.R265C missense 0.00000825●●●●●●
243. 39921015 c.1108C>T p.Q370X nonsense 0.00000825●●●●●●
244. 39919338 c.1394G>A p.R465H missense 0.00000824●●●●●●
245. 39919293 c.1439A>G p.Y480C missense 0.00000824●●●●●●
246. 39921313 c.916delA p.Ile306SerfsTer56 frameshift 0.00000824●●●●●●
247. 39921279 c.950A>T p.Q317L missense 0.00000824●●●●●●
248. 39921181 c.1048G>C p.E350Q missense 0.00000824●●●●●●
249. 39921193 c.1036C>T p.P346S missense 0.00000824●●●●●●
250. 39919474 c.1258T>C p.C420R missense 0.00000824●●●●●●
251. 39919372 c.1360C>T p.P454S missense 0.00000824●●●●●●
252. 39921315 c.914T>C p.I305T missense 0.00000824●●●●●●
253. 39919424 c.1308G>T p.E436D missense 0.00000824●●●●●●
254. 39919348 c.1384C>T p.L462F missense 0.00000824●●●●●●
255. 39921277 c.952A>G p.I318V missense 0.00000824●●●●●●
256. 39921232 c.997C>T p.R333C missense 0.00000824●●●●●●
257. 39921183 c.1046T>C p.V349A missense 0.00000824●●●●●●
258. 39919389 c.1343A>G p.K448R missense 0.00000824●●●●●●
259. 39919476 c.1256C>T p.T419I missense 0.00000824●●●●●●
260. 39913717 c.1996G>A p.V666M missense 0.00000824●●●●●●
261. 39919384 c.1348_1350delGAC p.Asp450del inframe 0.00000824●●●●●●
262. 39919443 c.1289C>A p.T430K missense 0.00000824●●●●●●
263. 39913737 c.1976A>G p.D659G missense 0.00000824●●●●●●
264. 39913681 c.2032G>A p.A678T missense 0.00000824●●●●●●
265. 39921283 c.946G>A p.V316M missense 0.00000824●●●●●●
266. 39921240 c.989C>A p.T330N missense 0.00000824●●●●●●
267. 39921302 c.927T>A p.N309K missense 0.00000824●●●●●●
268. 39921231 c.998G>A p.R333H missense 0.00000824●●●●●●
269. 39919384 c.1348G>A p.D450N missense 0.00000824●●●●●●
270. 39913723 c.1990G>A p.V664M missense 0.00000824●●●●●●
271. 39913717 c.1996G>T p.V666L missense 0.00000824●●●●●●
272. 39921174 c.1054+1G>A essential splice site 0.00000824●●●●●●
273. 39921278 c.951G>C p.Q317H missense 0.00000824●●●●●●
274. 39921265 c.964T>C p.Y322H missense 0.00000824●●●●●●
275. 39919470 c.1262A>G p.N421S missense 0.00000824●●●●●●
276. 39921256 c.973G>A p.E325K missense 0.00000824●●●●●●
277. 39919413 c.1319A>G p.H440R missense 0.00000824●●●●●●
278. 39913726 c.1987C>T p.R663C 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.