PKP2 protein-altering variants in ExAC


The table below lists the PKP2 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. 33030829 c.985A>T p.S329C missense 0.00009981
2. 33030861 c.953A>C p.H318P missense 0.00009923
3. 33031084 c.730C>G p.P244A missense 0.00009910
4. 33031266 c.548G>A p.S183N missense 0.00009887
5. 33031089 c.725C>T p.T242M missense 0.00009084
6. 32996161 c.1465G>A p.G489R missense 0.00008684
7. 33049610 c.56A>C p.Q19P missense 0.00008414
8. 32949229 c.2303A>C p.K768T missense 0.00008410
9. 33003847 c.1231G>A p.V411I missense 0.00008237
10. 32949050 c.2482G>A p.G828S missense 0.00008237
11. 32996164 c.1462G>A p.G488S missense 0.00008059
12. 33031408 c.406G>T p.V136L missense 0.00007501
13. 33031400 c.414A>T p.E138D missense 0.00007474
14. 33030850 c.964G>T p.G322C missense 0.00007451
15. 33030919 c.895C>T p.R299C missense 0.00007431
16. 32945663 c.2492A>G p.Y831C missense 0.00007415
17. 33031203 c.611G>A p.R204H missense 0.00007414
18. 32974306 c.2129C>T p.T710M missense 0.00006597
19. 33031341 c.473G>A p.R158K missense 0.00006597
20. 32975500 c.1872G>T p.E624D missense 0.00006593
21. 32974415 c.2020G>A p.V674M missense 0.00006593
22. 32974414 c.2021T>C p.V674A missense 0.00006592
23. 33031255 c.559G>A p.A187T missense 0.00006591
24. 33030873 c.941G>A p.G314E missense 0.00005784
25. 33030915 c.899C>A p.T300K missense 0.00005780
26. 32949068 c.2464A>G p.I822V missense 0.00005766
27. 32945603 c.2552C>T p.T851M missense 0.00005766
28. 32945392 c.2612G>A p.R871Q missense 0.00005766
29. 32955432 c.2204G>A p.R735Q missense 0.00005766
30. 32993981 c.1669A>G p.N557D missense 0.00005766
31. 32996139 c.1487T>A p.V496D missense 0.00005050
32. 33030886 c.928G>A p.V310M missense 0.00004955
33. 32949200 c.2332A>G p.I778V missense 0.00004949
34. 32955491 c.2146-1G>C essential splice site 0.00004944
35. 32955363 c.2273G>A p.R758Q missense 0.00004943
36. 32945631 c.2524G>A p.V842I missense 0.00004942
37. 32949098 c.2434G>A p.D812N missense 0.00004942
38. 32996128 c.1498C>T p.P500S missense 0.00004734
39. 32996241 c.1385C>G p.T462R missense 0.00004164
40. 33030831 c.983G>C p.G328A missense 0.00004159
41. 33030843 c.971_972insCT p.Ala325TrpfsTer28 frameshift 0.00004148
42. 33030846 c.968_969delAG p.Gln323ArgfsTer12 frameshift 0.00004145
43. 33030874 c.940G>A p.G314R missense 0.00004131
44. 33031101 c.713C>T p.P238L missense 0.00004129
45. 33031026 c.788C>T p.T263M missense 0.00004129
46. 32975561 c.1811C>T p.T604M missense 0.00004126
47. 33031204 c.610C>T p.R204C missense 0.00004119
48. 33021962 c.1069G>A p.V357M missense 0.00004119
49. 32993978 c.1672G>A p.V558I missense 0.00004119
50. 32994035 c.1615C>G p.P539A missense 0.00004119
51. 32949101 c.2431C>T p.R811C missense 0.00004118
52. 32996137 c.1489C>T p.R497X nonsense 0.00003606
53. 33030834 c.980G>T p.G327V missense 0.00003325
54. 33031066 c.748C>T p.R250C missense 0.00003305
55. 33030976 c.838G>A p.V280I missense 0.00003305
56. 33030876 c.938G>A p.S313N missense 0.00003304
57. 33031126 c.688G>A p.V230I missense 0.00003300
58. 33031350 c.464G>C p.S155T missense 0.00003299
59. 32974355 c.2080G>A p.V694I missense 0.00003297
60. 32975444 c.1928A>G p.K643R missense 0.00003297
61. 32974373 c.2062T>C p.S688P missense 0.00003296
62. 33031902 c.288T>G p.D96E missense 0.00003296
63. 33021986 c.1045A>G p.M349V missense 0.00003295
64. 32945618 c.2537C>T p.S846F missense 0.00003295
65. 33021950 c.1081G>A p.E361K missense 0.00003295
66. 32993990 c.1660A>G p.I554V missense 0.00003295
67. 32949166 c.2366T>A p.I789N missense 0.00003295
68. 32993999 c.1651G>A p.D551N missense 0.00003295
69. 33049472 c.194C>T p.A65V missense 0.00003207
70. 33049530 c.136C>A p.R46S missense 0.00003098
71. 33049589 c.77A>G p.D26G missense 0.00003089
72. 33049588 c.78C>A p.D26E missense 0.00003080
73. 32996122 c.1504C>T p.Q502X nonsense 0.00002854
74. 33049520 c.146A>G p.Q49R missense 0.00002829
75. 32996151 c.1475_1476insCT p.Arg493Ter frameshift 0.00002799
76. 33030790 c.1024T>C p.S342P missense 0.00002566
77. 33030804 c.1010G>A p.S337N missense 0.00002526
78. 33049443 c.223G>A p.G75R missense 0.00002480
79. 32994092 c.1558A>G p.I520V missense 0.00002479
80. 33031030 c.784C>A p.L262M missense 0.00002477
81. 32974301 c.2134G>A p.G712R missense 0.00002475
82. 32974441 c.1994C>G p.P665R missense 0.00002474
83. 32994067 c.1583C>T p.T528M missense 0.00002474
84. 32994062 c.1588A>G p.N530D missense 0.00002473
85. 32974351 c.2084G>A p.R695H missense 0.00002473
86. 32975415 c.1957A>G p.R653G missense 0.00002473
87. 32975484 c.1888A>G p.I630V missense 0.00002472
88. 32949166 c.2366T>C p.I789T missense 0.00002472
89. 33031194 c.620C>G p.T207S missense 0.00002472
90. 33003888 c.1190T>A p.I397N missense 0.00002472
91. 32945612 c.2543G>C p.W848S missense 0.00002471
92. 32949083 c.2449G>A p.G817R missense 0.00002471
93. 33003756 c.1322G>A p.R441Q missense 0.00002471
94. 33031209 c.605T>C p.V202A missense 0.00002471
95. 33021967 c.1064G>A p.R355Q missense 0.00002471
96. 32949100 c.2432G>A p.R811H missense 0.00002471
97. 32949042 c.2489+1G>A essential splice site 0.00002471
98. 32996166 c.1460A>G p.Q487R missense 0.00002008
99. 32996134 c.1492G>A p.D498N missense 0.00002006
100. 33049556 c.110A>G p.K37R missense 0.00001943
101. 32996184 c.1442C>T p.P481L missense 0.00001776
102. 32996202 c.1424T>G p.V475G missense 0.00001692
103. 32996211 c.1415C>T p.P472L missense 0.00001677
104. 32996242 c.1384A>G p.T462A missense 0.00001665
105. 33030832 c.982G>A p.G328R missense 0.00001663
106. 33030840 c.974C>T p.A325V missense 0.00001660
107. 33030843 c.971C>T p.A324V missense 0.00001659
108. 33030850 c.964G>A p.G322S missense 0.00001656
109. 33031074 c.740G>A p.G247E missense 0.00001656
110. 33030960 c.854C>T p.A285V missense 0.00001652
111. 33031006 c.808C>T p.Q270X nonsense 0.00001652
112. 33030900 c.914G>A p.G305E missense 0.00001651
113. 33030925 c.889A>T p.S297C missense 0.00001651
114. 33031954 c.236G>A p.R79Q missense 0.00001651
115. 33030921 c.893C>A p.T298N missense 0.00001651
116. 32974456 c.1979A>G p.Q660R missense 0.00001650
117. 32994076 c.1574T>G p.L525R missense 0.00001650
118. 32974451 c.1984G>A p.V662M missense 0.00001650
119. 32974358 c.2077A>G p.S693G missense 0.00001649
120. 32974345 c.2090A>G p.Y697C missense 0.00001649
121. 33031132 c.682G>A p.D228N missense 0.00001649
122. 33003897 c.1181T>A p.L394H missense 0.00001649
123. 32977077 c.1708G>A p.A570T missense 0.00001649
124. 32977074 c.1711G>A p.D571N missense 0.00001649
125. 32994037 c.1613G>A p.W538X nonsense 0.00001648
126. 33031212 c.602G>A p.G201E missense 0.00001648
127. 32945368 c.2636T>C p.L879P missense 0.00001648
128. 33031252 c.562C>G p.L188V missense 0.00001648
129. 33031892 c.298G>A p.G100S missense 0.00001648
130. 33031916 c.274T>G p.L92V missense 0.00001648
131. 33031228 c.586C>T p.R196C missense 0.00001648
132. 32975446 c.1926_1928delCAA inframe 0.00001648
133. 33031298 c.516C>A p.S172R missense 0.00001648
134. 32955364 c.2272C>T p.R758W missense 0.00001648
135. 33031877 c.313C>G p.P105A missense 0.00001648
136. 33031281 c.533T>C p.L178P missense 0.00001648
137. 32974364 c.2071G>A p.A691T missense 0.00001648
138. 33031239 c.575C>T p.P192L missense 0.00001648
139. 32945393 c.2611C>T p.R871W missense 0.00001648
140. 33031227 c.587G>A p.R196H missense 0.00001648
141. 32975431 c.1941T>G p.C647W missense 0.00001648
142. 33031260 c.554G>A p.R185Q missense 0.00001648
143. 32975483 c.1889T>C p.I630T missense 0.00001648
144. 33031261 c.553C>T p.R185W missense 0.00001648
145. 32974380 c.2055G>A p.M685I missense 0.00001648
146. 33031246 c.568G>C p.V190L missense 0.00001648
147. 32955351 c.2285T>C p.L762P missense 0.00001648
148. 32945595 c.2560C>T p.H854Y missense 0.00001647
149. 33021887 c.1144T>C p.F382L missense 0.00001647
150. 32994008 c.1642G>T p.G548C missense 0.00001647
151. 32993995 c.1655T>G p.F552C missense 0.00001647
152. 33003841 c.1237C>T p.R413X nonsense 0.00001647
153. 33021904 c.1127T>C p.F376S missense 0.00001647
154. 33003762 c.1316T>G p.V439G missense 0.00001647
155. 33021983 c.1048G>A p.E350K missense 0.00001647
156. 33049535 c.131G>A p.S44N missense 0.00001632
157. 32996142 c.1484G>A p.G495E missense 0.00001556
158. 32996146 c.1480T>G p.S494A missense 0.00001458
159. 33049444 c.222C>G p.N74K missense 0.00001238
160. 33049508 c.158G>A p.S53N missense 0.00001195
161. 33049457 c.209G>C p.S70T missense 0.00001134
162. 33049458 c.208A>G p.S70G missense 0.00001126
163. 33049499 c.167T>C p.I56T missense 0.00001110
164. 32996167 c.1459C>A p.Q487K missense 0.00000981
165. 32996172 c.1454G>T p.G485V missense 0.00000936
166. 33030786 c.1028A>G p.Q343R missense 0.00000861
167. 33031455 c.359A>C p.E120A missense 0.00000857
168. 33031450 c.364C>T p.R122C missense 0.00000855
169. 33031449 c.365G>T p.R122L missense 0.00000855
170. 33031449 c.365G>A p.R122H missense 0.00000855
171. 33031445 c.369G>A p.W123X nonsense 0.00000853
172. 33030801 c.1013C>A p.T338N missense 0.00000844
173. 32996217 c.1409G>C p.G470A missense 0.00000836
174. 32949225 c.2307A>T p.E769D missense 0.00000834
175. 32996239 c.1387G>A p.V463I missense 0.00000833
176. 33030829 c.985A>C p.S329R missense 0.00000832
177. 33031405 c.409G>A p.E137K missense 0.00000832
178. 33030837 c.977C>A p.A326E missense 0.00000831
179. 32949221 c.2311C>G p.L771V missense 0.00000831
180. 33030834 c.980G>A p.G327E missense 0.00000831
181. 32994140 c.1511-1G>T essential splice site 0.00000830
182. 33030838 c.976G>A p.A326T missense 0.00000830
183. 32994133 c.1517T>C p.L506P missense 0.00000830
184. 32994139 c.1511G>T p.G504V missense 0.00000830
185. 33030843 c.971C>G p.A324G missense 0.00000829
186. 33031065 c.749G>T p.R250L missense 0.00000828
187. 33031002 c.812T>G p.V271G missense 0.00000827
188. 33031960 c.230T>A p.L77H missense 0.00000827
189. 32994095 c.1555A>G p.M519V missense 0.00000827
190. 32994103 c.1547A>C p.K516T missense 0.00000827
191. 33030864 c.950C>T p.A317V missense 0.00000827
192. 33030952 c.862T>C p.S288P missense 0.00000826
193. 33030880 c.934T>C p.S312P missense 0.00000826
194. 33030984 c.830T>C p.L277P missense 0.00000826
195. 33031084 c.730C>T p.P244S missense 0.00000826
196. 33030968 c.846G>C p.Q282H missense 0.00000826
197. 32994089 c.1561A>G p.T521A missense 0.00000826
198. 32977097 c.1689-1G>C essential splice site 0.00000826
199. 33030955 c.859A>G p.R287G missense 0.00000826
200. 33030889 c.925G>A p.A309T missense 0.00000826
201. 33031059 c.755T>C p.M252T missense 0.00000826
202. 33030997 c.817C>T p.P273S missense 0.00000826
203. 33030928 c.886C>A p.H296N missense 0.00000826
204. 33031021 c.793G>A p.G265R missense 0.00000826
205. 33031009 c.805G>A p.G269R missense 0.00000826
206. 32994091 c.1559T>A p.I520K missense 0.00000826
207. 33030964 c.850A>G p.R284G missense 0.00000826
208. 33030918 c.896G>A p.R299H missense 0.00000826
209. 33030997 c.817C>G p.P273A missense 0.00000826
210. 33030941 c.873T>A p.H291Q missense 0.00000826
211. 33031095 c.719T>C p.L240P missense 0.00000826
212. 33003698 c.1378+2T>A essential splice site 0.00000826
213. 33031012 c.802G>T p.V268F missense 0.00000826
214. 32994083 c.1567G>C p.A523P missense 0.00000825
215. 32974457 c.1978C>T p.Q660X nonsense 0.00000825
216. 33031053 c.761A>C p.N254T missense 0.00000825
217. 33003895 c.1183C>T p.R395C missense 0.00000825
218. 32974455 c.1980G>C p.Q660H missense 0.00000825
219. 33031353 c.461G>A p.S154N missense 0.00000825
220. 32975555 c.1817A>G p.N606S missense 0.00000825
221. 32949196 c.2336C>G p.P779R missense 0.00000825
222. 33031357 c.457G>A p.D153N missense 0.00000825
223. 33031940 c.250C>T p.P84S missense 0.00000825
224. 33003711 c.1367A>G p.K456R missense 0.00000825
225. 32975551 c.1821dupT frameshift 0.00000825
226. 32975562 c.1810A>G p.T604A missense 0.00000825
227. 32949197 c.2335C>G p.P779A missense 0.00000825
228. 33031364 c.450T>G p.I150M missense 0.00000825
229. 33031347 c.467C>T p.P156L missense 0.00000825
230. 32977086 c.1699T>A p.S567T missense 0.00000825
231. 32976987 c.1798G>A p.D600N missense 0.00000824
232. 32975529 c.1843T>A p.S615T missense 0.00000824
233. 33031915 c.275T>C p.L92S missense 0.00000824
234. 32955425 c.2211G>A p.M737I missense 0.00000824
235. 33031865 c.325G>A p.D109N missense 0.00000824
236. 33021978 c.1053G>T p.M351I missense 0.00000824
237. 33031931 c.259G>C p.V87L missense 0.00000824
238. 32975420 c.1952G>A p.R651Q missense 0.00000824
239. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824
240. 32977076 c.1709C>T p.A570V missense 0.00000824
241. 32949110 c.2422C>G p.Q808E missense 0.00000824
242. 33031293 c.521C>T p.A174V missense 0.00000824
243. 33003816 c.1262A>G p.N421S missense 0.00000824
244. 32974386 c.2049A>G p.I683M missense 0.00000824
245. 32994013 c.1637C>G p.A546G missense 0.00000824
246. 32977035 c.1750G>C p.D584H missense 0.00000824
247. 32945653 c.2502C>G p.N834K missense 0.00000824
248. 32955468 c.2168C>T p.T723I missense 0.00000824
249. 33031216 c.598G>A p.V200M missense 0.00000824
250. 32975538 c.1834C>T p.H612Y missense 0.00000824
251. 32945401 c.2603T>A p.V868D missense 0.00000824
252. 33021940 c.1091A>T p.H364L missense 0.00000824
253. 32975446 c.1926C>A p.N642K missense 0.00000824
254. 32949184 c.2348C>T p.P783L missense 0.00000824
255. 32993972 c.1678G>A p.G560R missense 0.00000824
256. 33031273 c.541C>G p.Q181E missense 0.00000824
257. 32974361 c.2074A>T p.K692X nonsense 0.00000824
258. 32974314 c.2121G>T p.Q707H missense 0.00000824
259. 32976990 c.1795C>A p.P599T missense 0.00000824
260. 32945376 c.2628C>A p.Y876X nonsense 0.00000824
261. 32955430 c.2206A>G p.K736E missense 0.00000824
262. 33031870 c.320C>T p.T107I missense 0.00000824
263. 32975496 c.1876T>A p.Y626N missense 0.00000824
264. 33021901 c.1130T>C p.I377T missense 0.00000824
265. 32975424 c.1948A>G p.S650G missense 0.00000824
266. 32955345 c.2291A>G p.N764S missense 0.00000824
267. 32994017 c.1633A>G p.K545E missense 0.00000824
268. 32949116 c.2416A>G p.S806G missense 0.00000824
269. 33003879 c.1199T>A p.L400H missense 0.00000824
270. 32977061 c.1724C>G p.A575G missense 0.00000824
271. 32945654 c.2501A>G p.N834S missense 0.00000824
272. 33031258 c.556G>A p.A186T missense 0.00000824
273. 32945411 c.2593A>G p.T865A missense 0.00000824
274. 32955486 c.2150C>G p.P717R missense 0.00000824
275. 33031897 c.293T>C p.V98A missense 0.00000824
276. 33021950 c.1081G>C p.E361Q missense 0.00000824
277. 32975453 c.1919A>G p.D640G missense 0.00000824
278. 32955364 c.2272C>G p.R758G missense 0.00000824
279. 32945651 c.2504A>G p.K835R missense 0.00000824
280. 32955414 c.2222G>T p.G741V missense 0.00000824
281. 33003757 c.1321C>T p.R441W missense 0.00000824
282. 32974321 c.2114C>T p.A705V missense 0.00000824
283. 33021968 c.1063C>T p.R355X nonsense 0.00000824
284. 32975469 c.1903C>T p.R635W missense 0.00000824
285. 32976997 c.1788T>G p.D596E missense 0.00000824
286. 32945628 c.2527C>T p.L843F missense 0.00000824
287. 32975511 c.1861G>A p.E621K missense 0.00000824
288. 33031158 c.656G>A p.R219K missense 0.00000824
289. 32955448 c.2188G>A p.G730S missense 0.00000824
290. 33031877 c.313C>T p.P105S missense 0.00000824
291. 32955346 c.2290A>C p.N764H missense 0.00000824
292. 33021917 c.1114G>A p.A372T missense 0.00000824
293. 33003786 c.1292T>C p.L431S missense 0.00000824
294. 32994028 c.1622G>T p.G541V missense 0.00000824
295. 33031332 c.482A>G p.Y161C missense 0.00000824
296. 32974429 c.2006G>T p.S669I missense 0.00000824
297. 32945660 c.2495C>T p.A832V missense 0.00000824
298. 32945585 c.2570A>T p.Y857F missense 0.00000824
299. 32955487 c.2149C>T p.P717S missense 0.00000824
300. 32955403 c.2233G>T p.V745L missense 0.00000824
301. 33031864 c.326A>T p.D109V missense 0.00000824
302. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824
303. 32955343 c.2293G>C p.E765Q missense 0.00000824
304. 33021868 c.1163G>A p.R388Q missense 0.00000824
305. 32949044 c.2488G>C p.A830P missense 0.00000824
306. 32949104 c.2428G>A p.A810T missense 0.00000824
307. 33031284 c.530C>T p.T177I missense 0.00000824
308. 32945648 c.2507C>A p.A836E missense 0.00000824
309. 32974324 c.2111G>A p.G704E missense 0.00000824
310. 32975421 c.1951C>T p.R651X nonsense 0.00000824
311. 32977031 c.1754C>T p.S585L missense 0.00000824
312. 33031891 c.299G>A p.G100D missense 0.00000824
313. 33021869 c.1162C>T p.R388W missense 0.00000824
314. 32975535 c.1837A>C p.N613H missense 0.00000824
315. 32945398 c.2606A>C p.N869T missense 0.00000824
316. 33031180 c.634C>T p.R212C missense 0.00000824
317. 32955466 c.2170G>A p.V724I missense 0.00000824
318. 33021936 c.1095G>T p.M365I missense 0.00000824
319. 33031151 c.663C>A p.Y221X nonsense 0.00000824
320. 32994051 c.1599C>G p.I533M missense 0.00000824
321. 32949179 c.2353A>G p.T785A missense 0.00000824
322. 33003894 c.1184G>C p.R395P missense 0.00000824
323. 33031272 c.542A>C p.Q181P missense 0.00000824
324. 33003727 c.1351G>A p.D451N missense 0.00000824
325. 32974360 c.2075A>G p.K692R missense 0.00000824
326. 32975468 c.1904G>A p.R635Q missense 0.00000824
327. 32955378 c.2258T>A p.L753Q 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.