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

* 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.