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

* 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.