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. 236902707 c.982C>T p.R328W missense 0.00005766
18. 236882283 c.331G>A p.G111R 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. 236891016 c.575G>A p.R192Q missense 0.00004942
28. 236902651 c.926C>T p.P309L 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. 236912494 c.1586A>G p.N529S missense 0.00004119
36. 236906268 c.1180C>T p.R394W missense 0.00004119
37. 236906250 c.1162T>A p.W388R 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. 236907976 c.1306G>T p.E436X nonsense 0.00003310
43. 236918473 c.2129A>G p.N710S missense 0.00003310
44. 236907977 c.1307A>T p.E436V missense 0.00003309
45. 236918452 c.2108A>T p.Q703L missense 0.00003302
46. 236924430 c.2483C>T p.A828V missense 0.00003301
47. 236925803 c.2569G>C p.D857H missense 0.00003301
48. 236918426 c.2082G>C p.K694N missense 0.00003298
49. 236914828 c.1715G>A p.R572Q missense 0.00003297
50. 236924372 c.2425G>A p.V809I missense 0.00003296
51. 236912460 c.1552C>T p.H518Y missense 0.00003296
52. 236914938 c.1825A>C p.T609P missense 0.00003295
53. 236889292 c.508A>C p.N170H missense 0.00003295
54. 236883462 c.419G>A p.R140H missense 0.00003295
55. 236912532 c.1624A>G p.M542V missense 0.00003295
56. 236902621 c.896G>A p.R299H missense 0.00003295
57. 236924360 c.2413G>A p.G805R missense 0.00003295
58. 236906280 c.1192C>T p.R398C 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. 236918395 c.2051A>G p.N684S missense 0.00002472
70. 236918412 c.2068_2070delAAC p.Asn690del inframe 0.00002472
71. 236924396 c.2449T>C p.F817L missense 0.00002472
72. 236902624 c.899C>T p.T300M missense 0.00002471
73. 236912514 c.1606A>G p.M536V missense 0.00002471
74. 236923045 c.2323C>T p.H775Y missense 0.00002471
75. 236902662 c.937A>T p.M313L missense 0.00002471
76. 236918380 c.2036A>G p.K679R missense 0.00002471
77. 236902704 c.979C>T p.R327C missense 0.00002471
78. 236918329 c.1985G>A p.R662Q missense 0.00002471
79. 236920793 c.2162G>A p.R721H missense 0.00002471
80. 236918383 c.2039A>G p.Q680R 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. 236898940 c.703G>A p.V235M missense 0.00001654
93. 236917313 c.1906G>A p.E636K missense 0.00001654
94. 236902795 c.1070G>A p.R357H missense 0.00001651
95. 236898982 c.745G>A p.V249I missense 0.00001651
96. 236924429 c.2482G>A p.A828T missense 0.00001650
97. 236902782 c.1057C>T p.R353W missense 0.00001649
98. 236906327 c.1239C>G p.H413Q missense 0.00001649
99. 236912457 c.1549C>T p.L517F missense 0.00001648
100. 236918418 c.2074A>G p.I692V missense 0.00001648
101. 236914891 c.1778T>C p.I593T missense 0.00001648
102. 236914925 c.1812G>A p.M604I missense 0.00001648
103. 236912446 c.1538C>A p.T513N missense 0.00001648
104. 236918322 c.1978A>T p.I660F missense 0.00001648
105. 236918413 c.2069A>G p.N690S missense 0.00001648
106. 236912533 c.1625T>G p.M542R missense 0.00001648
107. 236902643 c.918C>A p.N306K missense 0.00001647
108. 236906244 c.1156G>A p.E386K missense 0.00001647
109. 236920810 c.2179C>G p.L727V missense 0.00001647
110. 236906205 c.1117G>A p.G373S missense 0.00001647
111. 236889301 c.517A>G p.I173V missense 0.00001647
112. 236912502 c.1594A>T p.M532L missense 0.00001647
113. 236902644 c.919C>T p.R307W missense 0.00001647
114. 236891021 c.580C>T p.R194W missense 0.00001647
115. 236902695 c.970C>T p.R324W missense 0.00001647
116. 236912508 c.1600G>A p.G534S missense 0.00001647
117. 236882201 c.249G>C p.R83S missense 0.00001647
118. 236906233 c.1145A>G p.E382G missense 0.00001647
119. 236920853 c.2222A>G p.Q741R missense 0.00001647
120. 236920792 c.2161C>T p.R721C 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. 236900425 c.787G>C p.E263Q missense 0.00000840
134. 236911035 c.1475G>A p.R492Q 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. 236900443 c.805A>G p.I269V missense 0.00000831
141. 236914771 c.1658G>C p.S553T missense 0.00000831
142. 236917376 c.1969A>T p.M657L missense 0.00000831
143. 236881176 c.145A>C p.N49H missense 0.00000831
144. 236899013 c.776C>T p.A259V missense 0.00000830
145. 236917367 c.1960C>A p.Q654K missense 0.00000829
146. 236881198 c.167G>A p.G56D missense 0.00000829
147. 236899007 c.770C>T p.A257V missense 0.00000829
148. 236907958 c.1288G>A p.E430K missense 0.00000829
149. 236917359 c.1952C>T p.P651L missense 0.00000829
150. 236908060 c.1390A>G p.I464V missense 0.00000828
151. 236908064 c.1394C>A p.A465E missense 0.00000828
152. 236908064 c.1394C>T p.A465V missense 0.00000828
153. 236908040 c.1370G>T p.R457L missense 0.00000827
154. 236907979 c.1309G>A p.V437M missense 0.00000827
155. 236917325 c.1918C>T p.R640C missense 0.00000827
156. 236908018 c.1348G>T p.D450Y missense 0.00000827
157. 236907998 c.1328A>T p.K443M missense 0.00000827
158. 236908012 c.1342G>C p.E448Q missense 0.00000827
159. 236907983 c.1313G>A p.R438Q missense 0.00000827
160. 236917326 c.1919G>A p.R640H missense 0.00000827
161. 236908039 c.1369C>T p.R457C missense 0.00000827
162. 236908002 c.1332C>G p.H444Q missense 0.00000827
163. 236925762 c.2528C>A p.P843Q missense 0.00000827
164. 236908013 c.1343A>G p.E448G missense 0.00000827
165. 236907982 c.1312C>T p.R438W missense 0.00000827
166. 236907994 c.1324C>T p.R442W missense 0.00000827
167. 236908003 c.1333G>A p.E445K missense 0.00000827
168. 236925762 c.2528C>T p.P843L missense 0.00000827
169. 236898947 c.710C>T p.T237I missense 0.00000826
170. 236925788 c.2554C>T p.R852W missense 0.00000826
171. 236925849 c.2615C>A p.P872Q missense 0.00000826
172. 236924435 c.2488C>A p.Q830K missense 0.00000826
173. 236925843 c.2609C>T p.S870L missense 0.00000826
174. 236925828 c.2594G>C p.R865T missense 0.00000826
175. 236925848 c.2614C>T p.P872S missense 0.00000826
176. 236924441 c.2494A>T p.I832F missense 0.00000826
177. 236925813 c.2579A>G p.Q860R missense 0.00000825
178. 236918448 c.2104A>G p.I702V missense 0.00000825
179. 236925807 c.2573A>C p.Q858P missense 0.00000825
180. 236912430 c.1522G>A p.E508K missense 0.00000825
181. 236925821 c.2587A>C p.I863L missense 0.00000825
182. 236917268 c.1861C>T p.R621C missense 0.00000825
183. 236918450 c.2106C>G p.I702M missense 0.00000825
184. 236924432 c.2485G>A p.E829K missense 0.00000825
185. 236918434 c.2090G>A p.G697E missense 0.00000825
186. 236925810 c.2576C>T p.A859V missense 0.00000825
187. 236914816 c.1703C>G p.A568G missense 0.00000825
188. 236924426 c.2479A>G p.T827A missense 0.00000825
189. 236917272 c.1865A>G p.D622G missense 0.00000825
190. 236925797 c.2563C>T p.P855S missense 0.00000825
191. 236902792 c.1067A>G p.N356S missense 0.00000825
192. 236924433 c.2486A>G p.E829G missense 0.00000825
193. 236925812 c.2578C>G p.Q860E missense 0.00000825
194. 236902794 c.1069C>T p.R357C missense 0.00000825
195. 236920895 c.2264T>C p.M755T missense 0.00000824
196. 236906196 c.1108G>A p.D370N missense 0.00000824
197. 236914836 c.1723A>G p.I575V missense 0.00000824
198. 236920840 c.2209G>A p.E737K missense 0.00000824
199. 236891025 c.584C>T p.P195L missense 0.00000824
200. 236914861 c.1748A>C p.E583A missense 0.00000824
201. 236889293 c.509A>T p.N170I missense 0.00000824
202. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824
203. 236924363 c.2416C>T p.Q806X nonsense 0.00000824
204. 236920920 c.2289C>A p.N763K missense 0.00000824
205. 236914924 c.1811T>C p.M604T missense 0.00000824
206. 236920855 c.2224A>T p.I742F missense 0.00000824
207. 236912554 c.1646A>T p.E549V missense 0.00000824
208. 236894546 c.629G>A p.G210E missense 0.00000824
209. 236914884 c.1771A>G p.I591V missense 0.00000824
210. 236891006 c.565C>G p.L189V missense 0.00000824
211. 236902728 c.1003G>T p.V335L missense 0.00000824
212. 236883444 c.401T>C p.I134T missense 0.00000824
213. 236924399 c.2452A>G p.M818V missense 0.00000824
214. 236912507 c.1599G>C p.E533D missense 0.00000824
215. 236902680 c.955A>G p.K319E missense 0.00000824
216. 236902621 c.896G>C p.R299P missense 0.00000824
217. 236906269 c.1181G>A p.R394Q missense 0.00000824
218. 236906322 c.1234A>G p.T412A missense 0.00000824
219. 236924334 c.2387G>A p.R796H missense 0.00000824
220. 236920908 c.2277A>T p.R759S missense 0.00000824
221. 236891030 c.589C>T p.L197F missense 0.00000824
222. 236912449 c.1541T>C p.I514T missense 0.00000824
223. 236914851 c.1738A>G p.N580D missense 0.00000824
224. 236920842 c.2211G>T p.E737D missense 0.00000824
225. 236912515 c.1607T>C p.M536T missense 0.00000824
226. 236902708 c.983G>A p.R328Q missense 0.00000824
227. 236912461 c.1553A>C p.H518P missense 0.00000824
228. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824
229. 236918364 c.2020C>A p.Q674K missense 0.00000824
230. 236882218 c.266G>A p.R89Q missense 0.00000824
231. 236924370 c.2423C>G p.T808S missense 0.00000824
232. 236906262 c.1174G>A p.E392K missense 0.00000824
233. 236923058 c.2336G>A p.R779K missense 0.00000824
234. 236902615 c.890T>C p.I297T missense 0.00000824
235. 236894563 c.646A>G p.M216V missense 0.00000824
236. 236920857 c.2226C>G p.I742M missense 0.00000824
237. 236894603 c.686T>G p.L229W missense 0.00000824
238. 236902734 c.1009G>C p.E337Q missense 0.00000824
239. 236918421 c.2077G>A p.D693N missense 0.00000824
240. 236883483 c.440C>T p.S147L missense 0.00000824
241. 236912511 c.1603G>T p.A535S missense 0.00000824
242. 236924358 c.2411A>G p.N804S missense 0.00000824
243. 236902624 c.899C>A p.T300K missense 0.00000824
244. 236882230 c.278G>A p.R93Q missense 0.00000824
245. 236906326 c.1238A>T p.H413L missense 0.00000824
246. 236920795 c.2164G>A p.V722I missense 0.00000824
247. 236906215 c.1127A>G p.Q376R missense 0.00000824
248. 236920883 c.2252C>T p.T751I missense 0.00000824
249. 236906203 c.1115C>G p.A372G missense 0.00000824
250. 236891052 c.611A>G p.N204S missense 0.00000824
251. 236914888 c.1775G>T p.R592I missense 0.00000824
252. 236920844 c.2213T>A p.V738E missense 0.00000824
253. 236902719 c.994C>T p.P332S missense 0.00000824
254. 236882253 c.301A>G p.N101D missense 0.00000824
255. 236890982 c.541A>G p.K181E missense 0.00000824
256. 236882227 c.275T>C p.M92T missense 0.00000824
257. 236924383 c.2436A>T p.Q812H missense 0.00000824
258. 236912481 c.1573G>A p.A525T missense 0.00000824
259. 236906289 c.1201C>T p.H401Y missense 0.00000824
260. 236923077 c.2355G>T p.M785I missense 0.00000824
261. 236914917 c.1804G>A p.V602I missense 0.00000824
262. 236914935 c.1822C>T p.R608W missense 0.00000824
263. 236902764 c.1039A>T p.T347S missense 0.00000824
264. 236920831 c.2200A>G p.T734A missense 0.00000824
265. 236891022 c.581G>A p.R194Q missense 0.00000824
266. 236914822 c.1709G>A p.G570E missense 0.00000824
267. 236912512 c.1604C>T p.A535V missense 0.00000824
268. 236902705 c.980G>A p.R327H missense 0.00000824
269. 236889235 c.451A>G p.T151A missense 0.00000824
270. 236912448 c.1540A>G p.I514V missense 0.00000824
271. 236902639 c.914A>C p.E305A missense 0.00000824
272. 236889294 c.510delT p.Asn170LysfsTer2 frameshift 0.00000824
273. 236920919 c.2288A>G p.N763S missense 0.00000824
274. 236923046 c.2324A>T p.H775L missense 0.00000824
275. 236891053 c.612C>G p.N204K missense 0.00000824
276. 236914906 c.1793C>T p.P598L missense 0.00000824
277. 236902771 c.1046A>T p.Q349L missense 0.00000824
278. 236902726 c.1001A>G p.K334R missense 0.00000824
279. 236890997 c.556C>G p.L186V missense 0.00000824
280. 236882229 c.277C>T p.R93W missense 0.00000824
281. 236912490 c.1582T>C p.F528L missense 0.00000824
282. 236902621 c.896G>T p.R299L missense 0.00000824
283. 236906320 c.1232C>T p.S411L missense 0.00000824
284. 236924333 c.2386C>T p.R796C 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.