ACTN2 protein-altering variants in ExAC


The table below lists the ACTN2 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. 236894607 c.690T>A p.D230E missense 0.00009885
2. 236902672 c.947T>C p.M316T missense 0.00009060
3. 236890997 c.556C>T p.L186F missense 0.00008237
4. 236910986 c.1426G>T p.A476S missense 0.00007530
5. 236911004 c.1444C>T p.R482W missense 0.00007480
6. 236882217 c.265C>T p.R89W missense 0.00007414
7. 236914936 c.1823G>A p.R608Q missense 0.00007414
8. 236902831 c.1106C>T p.S369L missense 0.00006795
9. 236907965 c.1295C>T p.A432V missense 0.00006629
10. 236881197 c.166G>A p.G56S missense 0.00006628
11. 236917299 c.1892G>A p.R631H missense 0.00006607
12. 236925789 c.2555G>A p.R852Q missense 0.00006604
13. 236924370 c.2423C>T p.T808I missense 0.00006591
14. 236907977 c.1307A>C p.E436A missense 0.00005791
15. 236925774 c.2540C>T p.A847V missense 0.00005783
16. 236914821 c.1708G>A p.G570R missense 0.00005771
17. 236882283 c.331G>A p.G111R missense 0.00005766
18. 236902707 c.982C>T p.R328W missense 0.00005766
19. 236902669 c.944C>A p.A315D missense 0.00005765
20. 236925836 c.2602G>A p.A868T missense 0.00004954
21. 236925786 c.2552G>A p.R851H missense 0.00004954
22. 236925801 c.2567C>T p.P856L missense 0.00004953
23. 236914827 c.1714C>T p.R572W missense 0.00004946
24. 236918328 c.1984C>T p.R662W missense 0.00004943
25. 236906260 c.1172A>G p.N391S missense 0.00004943
26. 236918347 c.2003C>G p.T668R missense 0.00004942
27. 236902651 c.926C>T p.P309L missense 0.00004942
28. 236891016 c.575G>A p.R192Q missense 0.00004942
29. 236920862 c.2231C>T p.T744M missense 0.00004942
30. 236850027 c.54G>C p.E18D missense 0.00004257
31. 236910993 c.1433A>T p.N478I missense 0.00004167
32. 236917316 c.1909C>T p.R637C missense 0.00004135
33. 236908028 c.1358C>T p.A453V missense 0.00004135
34. 236924454 c.2507G>A p.R836Q missense 0.00004132
35. 236906250 c.1162T>A p.W388R missense 0.00004119
36. 236912494 c.1586A>G p.N529S missense 0.00004119
37. 236906268 c.1180C>T p.R394W missense 0.00004119
38. 236920825 c.2194G>A p.A732T missense 0.00004118
39. 236920909 c.2278G>A p.A760T missense 0.00004118
40. 236925912 c.2678A>G p.D893G missense 0.00003463
41. 236902806 c.1081A>G p.M361V missense 0.00003318
42. 236918473 c.2129A>G p.N710S missense 0.00003310
43. 236907976 c.1306G>T p.E436X nonsense 0.00003310
44. 236907977 c.1307A>T p.E436V missense 0.00003309
45. 236918452 c.2108A>T p.Q703L missense 0.00003302
46. 236925803 c.2569G>C p.D857H missense 0.00003301
47. 236924430 c.2483C>T p.A828V missense 0.00003301
48. 236918426 c.2082G>C p.K694N missense 0.00003298
49. 236914828 c.1715G>A p.R572Q missense 0.00003297
50. 236912460 c.1552C>T p.H518Y missense 0.00003296
51. 236924372 c.2425G>A p.V809I missense 0.00003296
52. 236883462 c.419G>A p.R140H missense 0.00003295
53. 236912532 c.1624A>G p.M542V missense 0.00003295
54. 236906280 c.1192C>T p.R398C missense 0.00003295
55. 236924360 c.2413G>A p.G805R missense 0.00003295
56. 236889292 c.508A>C p.N170H missense 0.00003295
57. 236914938 c.1825A>C p.T609P missense 0.00003295
58. 236902621 c.896G>A p.R299H missense 0.00003295
59. 236925902 c.2668G>A p.G890R missense 0.00002553
60. 236911005 c.1445G>A p.R482Q missense 0.00002493
61. 236907958 c.1288G>C p.E430Q missense 0.00002488
62. 236917352 c.1945A>G p.I649V missense 0.00002485
63. 236907974 c.1304C>T p.T435I missense 0.00002482
64. 236908040 c.1370G>A p.R457H missense 0.00002482
65. 236907995 c.1325G>A p.R442Q missense 0.00002482
66. 236908018 c.1348G>A p.D450N missense 0.00002481
67. 236917269 c.1862G>A p.R621H missense 0.00002474
68. 236902783 c.1058G>A p.R353Q missense 0.00002473
69. 236924396 c.2449T>C p.F817L missense 0.00002472
70. 236918412 c.2068_2070delAAC p.Asn690del inframe 0.00002472
71. 236918395 c.2051A>G p.N684S missense 0.00002472
72. 236902704 c.979C>T p.R327C missense 0.00002471
73. 236902624 c.899C>T p.T300M missense 0.00002471
74. 236920793 c.2162G>A p.R721H missense 0.00002471
75. 236923045 c.2323C>T p.H775Y missense 0.00002471
76. 236912514 c.1606A>G p.M536V missense 0.00002471
77. 236918380 c.2036A>G p.K679R missense 0.00002471
78. 236918329 c.1985G>A p.R662Q missense 0.00002471
79. 236918383 c.2039A>G p.Q680R missense 0.00002471
80. 236902662 c.937A>T p.M313L missense 0.00002471
81. 236906281 c.1193G>A p.R398H missense 0.00002471
82. 236850086 c.113A>G p.K38R missense 0.00001902
83. 236925882 c.2648C>T p.A883V missense 0.00001667
84. 236907941 c.1271T>C p.L424S missense 0.00001664
85. 236925878 c.2644G>A p.A882T missense 0.00001663
86. 236917353 c.1946T>C p.I649T missense 0.00001657
87. 236918482 c.2138C>T p.T713M missense 0.00001657
88. 236908063 c.1393G>A p.A465T missense 0.00001656
89. 236925863 c.2629G>T p.G877C missense 0.00001655
90. 236908054 c.1384G>T p.A462S missense 0.00001655
91. 236908007 c.1337C>T p.A446V missense 0.00001654
92. 236917313 c.1906G>A p.E636K missense 0.00001654
93. 236898940 c.703G>A p.V235M missense 0.00001654
94. 236898982 c.745G>A p.V249I missense 0.00001651
95. 236902795 c.1070G>A p.R357H missense 0.00001651
96. 236924429 c.2482G>A p.A828T missense 0.00001650
97. 236906327 c.1239C>G p.H413Q missense 0.00001649
98. 236902782 c.1057C>T p.R353W missense 0.00001649
99. 236918413 c.2069A>G p.N690S missense 0.00001648
100. 236914925 c.1812G>A p.M604I missense 0.00001648
101. 236918418 c.2074A>G p.I692V missense 0.00001648
102. 236914891 c.1778T>C p.I593T missense 0.00001648
103. 236918322 c.1978A>T p.I660F missense 0.00001648
104. 236912533 c.1625T>G p.M542R missense 0.00001648
105. 236912457 c.1549C>T p.L517F missense 0.00001648
106. 236912446 c.1538C>A p.T513N missense 0.00001648
107. 236920792 c.2161C>T p.R721C missense 0.00001647
108. 236889301 c.517A>G p.I173V missense 0.00001647
109. 236920853 c.2222A>G p.Q741R missense 0.00001647
110. 236920810 c.2179C>G p.L727V missense 0.00001647
111. 236902643 c.918C>A p.N306K missense 0.00001647
112. 236891021 c.580C>T p.R194W missense 0.00001647
113. 236912508 c.1600G>A p.G534S missense 0.00001647
114. 236882201 c.249G>C p.R83S missense 0.00001647
115. 236906233 c.1145A>G p.E382G missense 0.00001647
116. 236902644 c.919C>T p.R307W missense 0.00001647
117. 236906244 c.1156G>A p.E386K missense 0.00001647
118. 236906205 c.1117G>A p.G373S missense 0.00001647
119. 236912502 c.1594A>T p.M532L missense 0.00001647
120. 236902695 c.970C>T p.R324W missense 0.00001647
121. 236850095 c.122G>A p.R41K missense 0.00001026
122. 236881263 c.232G>T p.V78F missense 0.00000902
123. 236850058 c.85G>A p.D29N missense 0.00000874
124. 236850052 c.79G>A p.D27N missense 0.00000867
125. 236925911 c.2677G>T p.D893Y missense 0.00000866
126. 236850032 c.59T>C p.M20T missense 0.00000853
127. 236849979 c.6C>A p.N2K missense 0.00000852
128. 236849985 c.12A>G p.I4M missense 0.00000850
129. 236850019 c.46G>A p.E16K missense 0.00000850
130. 236910975 c.1415A>T p.D472V missense 0.00000849
131. 236850014 c.41_43delACG p.Asp15del inframe 0.00000849
132. 236902824 c.1099A>G p.M367V missense 0.00000841
133. 236911035 c.1475G>A p.R492Q missense 0.00000840
134. 236900425 c.787G>C p.E263Q missense 0.00000840
135. 236925890 c.2656T>C p.S886P missense 0.00000836
136. 236902815 c.1090G>A p.E364K missense 0.00000834
137. 236907936 c.1266G>C p.Q422H missense 0.00000834
138. 236899019 c.782A>T p.Q261L missense 0.00000833
139. 236881224 c.193G>A p.D65N missense 0.00000832
140. 236917376 c.1969A>T p.M657L missense 0.00000831
141. 236900443 c.805A>G p.I269V missense 0.00000831
142. 236881176 c.145A>C p.N49H missense 0.00000831
143. 236914771 c.1658G>C p.S553T missense 0.00000831
144. 236899013 c.776C>T p.A259V missense 0.00000830
145. 236881198 c.167G>A p.G56D missense 0.00000829
146. 236917367 c.1960C>A p.Q654K missense 0.00000829
147. 236907958 c.1288G>A p.E430K missense 0.00000829
148. 236899007 c.770C>T p.A257V missense 0.00000829
149. 236917359 c.1952C>T p.P651L missense 0.00000829
150. 236908064 c.1394C>T p.A465V missense 0.00000828
151. 236908060 c.1390A>G p.I464V missense 0.00000828
152. 236908064 c.1394C>A p.A465E missense 0.00000828
153. 236908040 c.1370G>T p.R457L missense 0.00000827
154. 236917326 c.1919G>A p.R640H missense 0.00000827
155. 236907998 c.1328A>T p.K443M missense 0.00000827
156. 236907983 c.1313G>A p.R438Q missense 0.00000827
157. 236925762 c.2528C>A p.P843Q missense 0.00000827
158. 236908012 c.1342G>C p.E448Q missense 0.00000827
159. 236908018 c.1348G>T p.D450Y missense 0.00000827
160. 236925762 c.2528C>T p.P843L missense 0.00000827
161. 236908002 c.1332C>G p.H444Q missense 0.00000827
162. 236908039 c.1369C>T p.R457C missense 0.00000827
163. 236908013 c.1343A>G p.E448G missense 0.00000827
164. 236907994 c.1324C>T p.R442W missense 0.00000827
165. 236908003 c.1333G>A p.E445K missense 0.00000827
166. 236907979 c.1309G>A p.V437M missense 0.00000827
167. 236907982 c.1312C>T p.R438W missense 0.00000827
168. 236917325 c.1918C>T p.R640C missense 0.00000827
169. 236925849 c.2615C>A p.P872Q missense 0.00000826
170. 236898947 c.710C>T p.T237I missense 0.00000826
171. 236925843 c.2609C>T p.S870L missense 0.00000826
172. 236925828 c.2594G>C p.R865T missense 0.00000826
173. 236924441 c.2494A>T p.I832F missense 0.00000826
174. 236925848 c.2614C>T p.P872S missense 0.00000826
175. 236925788 c.2554C>T p.R852W missense 0.00000826
176. 236924435 c.2488C>A p.Q830K missense 0.00000826
177. 236918448 c.2104A>G p.I702V missense 0.00000825
178. 236924426 c.2479A>G p.T827A missense 0.00000825
179. 236917268 c.1861C>T p.R621C missense 0.00000825
180. 236902792 c.1067A>G p.N356S missense 0.00000825
181. 236925821 c.2587A>C p.I863L missense 0.00000825
182. 236925810 c.2576C>T p.A859V missense 0.00000825
183. 236924433 c.2486A>G p.E829G missense 0.00000825
184. 236925797 c.2563C>T p.P855S missense 0.00000825
185. 236917272 c.1865A>G p.D622G missense 0.00000825
186. 236902794 c.1069C>T p.R357C missense 0.00000825
187. 236918450 c.2106C>G p.I702M missense 0.00000825
188. 236925812 c.2578C>G p.Q860E missense 0.00000825
189. 236918434 c.2090G>A p.G697E missense 0.00000825
190. 236912430 c.1522G>A p.E508K missense 0.00000825
191. 236925813 c.2579A>G p.Q860R missense 0.00000825
192. 236925807 c.2573A>C p.Q858P missense 0.00000825
193. 236924432 c.2485G>A p.E829K missense 0.00000825
194. 236914816 c.1703C>G p.A568G missense 0.00000825
195. 236902719 c.994C>T p.P332S missense 0.00000824
196. 236902639 c.914A>C p.E305A missense 0.00000824
197. 236924383 c.2436A>T p.Q812H missense 0.00000824
198. 236902705 c.980G>A p.R327H missense 0.00000824
199. 236894546 c.629G>A p.G210E missense 0.00000824
200. 236920919 c.2288A>G p.N763S missense 0.00000824
201. 236906262 c.1174G>A p.E392K missense 0.00000824
202. 236891006 c.565C>G p.L189V missense 0.00000824
203. 236923077 c.2355G>T p.M785I missense 0.00000824
204. 236902764 c.1039A>T p.T347S missense 0.00000824
205. 236912449 c.1541T>C p.I514T missense 0.00000824
206. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824
207. 236920840 c.2209G>A p.E737K missense 0.00000824
208. 236912448 c.1540A>G p.I514V missense 0.00000824
209. 236882218 c.266G>A p.R89Q missense 0.00000824
210. 236902621 c.896G>T p.R299L missense 0.00000824
211. 236923046 c.2324A>T p.H775L missense 0.00000824
212. 236906326 c.1238A>T p.H413L missense 0.00000824
213. 236891030 c.589C>T p.L197F missense 0.00000824
214. 236914888 c.1775G>T p.R592I missense 0.00000824
215. 236914861 c.1748A>C p.E583A missense 0.00000824
216. 236920895 c.2264T>C p.M755T missense 0.00000824
217. 236912512 c.1604C>T p.A535V missense 0.00000824
218. 236906215 c.1127A>G p.Q376R missense 0.00000824
219. 236912490 c.1582T>C p.F528L missense 0.00000824
220. 236883483 c.440C>T p.S147L missense 0.00000824
221. 236902726 c.1001A>G p.K334R missense 0.00000824
222. 236918364 c.2020C>A p.Q674K missense 0.00000824
223. 236914935 c.1822C>T p.R608W missense 0.00000824
224. 236924333 c.2386C>T p.R796C missense 0.00000824
225. 236914822 c.1709G>A p.G570E missense 0.00000824
226. 236920920 c.2289C>A p.N763K missense 0.00000824
227. 236906289 c.1201C>T p.H401Y missense 0.00000824
228. 236906269 c.1181G>A p.R394Q missense 0.00000824
229. 236890982 c.541A>G p.K181E missense 0.00000824
230. 236920842 c.2211G>T p.E737D missense 0.00000824
231. 236882227 c.275T>C p.M92T missense 0.00000824
232. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824
233. 236920855 c.2224A>T p.I742F missense 0.00000824
234. 236902680 c.955A>G p.K319E missense 0.00000824
235. 236918421 c.2077G>A p.D693N missense 0.00000824
236. 236902621 c.896G>C p.R299P missense 0.00000824
237. 236902615 c.890T>C p.I297T missense 0.00000824
238. 236924363 c.2416C>T p.Q806X nonsense 0.00000824
239. 236914906 c.1793C>T p.P598L missense 0.00000824
240. 236894563 c.646A>G p.M216V missense 0.00000824
241. 236891052 c.611A>G p.N204S missense 0.00000824
242. 236912554 c.1646A>T p.E549V missense 0.00000824
243. 236906196 c.1108G>A p.D370N missense 0.00000824
244. 236889235 c.451A>G p.T151A missense 0.00000824
245. 236920795 c.2164G>A p.V722I missense 0.00000824
246. 236920908 c.2277A>T p.R759S missense 0.00000824
247. 236902771 c.1046A>T p.Q349L missense 0.00000824
248. 236902728 c.1003G>T p.V335L missense 0.00000824
249. 236894603 c.686T>G p.L229W missense 0.00000824
250. 236924334 c.2387G>A p.R796H missense 0.00000824
251. 236914836 c.1723A>G p.I575V missense 0.00000824
252. 236906320 c.1232C>T p.S411L missense 0.00000824
253. 236891022 c.581G>A p.R194Q missense 0.00000824
254. 236882230 c.278G>A p.R93Q missense 0.00000824
255. 236920857 c.2226C>G p.I742M missense 0.00000824
256. 236912507 c.1599G>C p.E533D missense 0.00000824
257. 236920844 c.2213T>A p.V738E missense 0.00000824
258. 236912461 c.1553A>C p.H518P missense 0.00000824
259. 236882229 c.277C>T p.R93W missense 0.00000824
260. 236914917 c.1804G>A p.V602I missense 0.00000824
261. 236902708 c.983G>A p.R328Q missense 0.00000824
262. 236902624 c.899C>A p.T300K missense 0.00000824
263. 236924399 c.2452A>G p.M818V missense 0.00000824
264. 236924370 c.2423C>G p.T808S missense 0.00000824
265. 236914924 c.1811T>C p.M604T missense 0.00000824
266. 236891053 c.612C>G p.N204K missense 0.00000824
267. 236912515 c.1607T>C p.M536T missense 0.00000824
268. 236890997 c.556C>G p.L186V missense 0.00000824
269. 236889293 c.509A>T p.N170I missense 0.00000824
270. 236882253 c.301A>G p.N101D missense 0.00000824
271. 236923058 c.2336G>A p.R779K missense 0.00000824
272. 236902734 c.1009G>C p.E337Q missense 0.00000824
273. 236889294 c.510delT p.Asn170LysfsTer2 frameshift 0.00000824
274. 236920831 c.2200A>G p.T734A missense 0.00000824
275. 236920883 c.2252C>T p.T751I missense 0.00000824
276. 236891025 c.584C>T p.P195L missense 0.00000824
277. 236906203 c.1115C>G p.A372G missense 0.00000824
278. 236924358 c.2411A>G p.N804S missense 0.00000824
279. 236914851 c.1738A>G p.N580D missense 0.00000824
280. 236906322 c.1234A>G p.T412A missense 0.00000824
281. 236914884 c.1771A>G p.I591V missense 0.00000824
282. 236912511 c.1603G>T p.A535S missense 0.00000824
283. 236912481 c.1573G>A p.A525T missense 0.00000824
284. 236883444 c.401T>C p.I134T 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.