ACTN2 protein-altering variants in ExAC

ACTN2 gene summary
ACTN2 variants in DCM, HCM

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 frequency▼Populations*
1. 236849979 c.6C>A p.N2K missense 0.00000852●●●●●●
2. 236849985 c.12A>G p.I4M missense 0.00000850●●●●●●
3. 236850014 c.41_43delACG p.Asp15del inframe 0.00000849●●●●●●
4. 236850019 c.46G>A p.E16K missense 0.00000850●●●●●●
5. 236850027 c.54G>C p.E18D missense 0.00004257●●●●●●
6. 236850032 c.59T>C p.M20T missense 0.00000853●●●●●●
7. 236850052 c.79G>A p.D27N missense 0.00000867●●●●●●
8. 236850058 c.85G>A p.D29N missense 0.00000874●●●●●●
9. 236850086 c.113A>G p.K38R missense 0.00001902●●●●●●
10. 236850095 c.122G>A p.R41K missense 0.00001026●●●●●●
11. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
12. 236881197 c.166G>A p.G56S missense 0.00006628●●●●●●
13. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
14. 236881224 c.193G>A p.D65N missense 0.00000832●●●●●●
15. 236881263 c.232G>T p.V78F missense 0.00000902●●●●●●
16. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
17. 236882217 c.265C>T p.R89W missense 0.00007414●●●●●●
18. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
19. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
20. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
21. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
22. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
23. 236882283 c.331G>A p.G111R missense 0.00005766●●●●●●
24. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
25. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
26. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
27. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
28. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
29. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
30. 236889294 c.510delT p.Asn170LysfsTer2 frameshift 0.00000824●●●●●●
31. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
32. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
33. 236890997 c.556C>T p.L186F missense 0.00008237●●●●●●
34. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
35. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
36. 236891016 c.575G>A p.R192Q missense 0.00004942●●●●●●
37. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
38. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
39. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
40. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
41. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
42. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
43. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
44. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
45. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
46. 236894607 c.690T>A p.D230E missense 0.00009885●●●●●●
47. 236898940 c.703G>A p.V235M missense 0.00001654●●●●●●
48. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
49. 236898982 c.745G>A p.V249I missense 0.00001651●●●●●●
50. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
51. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
52. 236899019 c.782A>T p.Q261L missense 0.00000833●●●●●●
53. 236900425 c.787G>C p.E263Q missense 0.00000840●●●●●●
54. 236900443 c.805A>G p.I269V missense 0.00000831●●●●●●
55. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
56. 236902621 c.896G>A p.R299H missense 0.00003295●●●●●●
57. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
58. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
59. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
60. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
61. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
62. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
63. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
64. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
65. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
66. 236902669 c.944C>A p.A315D missense 0.00005765●●●●●●
67. 236902672 c.947T>C p.M316T missense 0.00009060●●●●●●
68. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
69. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
70. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
71. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
72. 236902707 c.982C>T p.R328W missense 0.00005766●●●●●●
73. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
74. 236902719 c.994C>T p.P332S missense 0.00000824●●●●●●
75. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
76. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
77. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
78. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
79. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
80. 236902782 c.1057C>T p.R353W missense 0.00001649●●●●●●
81. 236902783 c.1058G>A p.R353Q missense 0.00002473●●●●●●
82. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
83. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
84. 236902795 c.1070G>A p.R357H missense 0.00001651●●●●●●
85. 236902806 c.1081A>G p.M361V missense 0.00003318●●●●●●
86. 236902815 c.1090G>A p.E364K missense 0.00000834●●●●●●
87. 236902824 c.1099A>G p.M367V missense 0.00000841●●●●●●
88. 236902831 c.1106C>T p.S369L missense 0.00006795●●●●●●
89. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
90. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
91. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
92. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
93. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
94. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
95. 236906250 c.1162T>A p.W388R missense 0.00004119●●●●●●
96. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
97. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
98. 236906268 c.1180C>T p.R394W missense 0.00004119●●●●●●
99. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
100. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
101. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
102. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
103. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
104. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
105. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
106. 236906327 c.1239C>G p.H413Q missense 0.00001649●●●●●●
107. 236907936 c.1266G>C p.Q422H missense 0.00000834●●●●●●
108. 236907941 c.1271T>C p.L424S missense 0.00001664●●●●●●
109. 236907958 c.1288G>C p.E430Q missense 0.00002488●●●●●●
110. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
111. 236907965 c.1295C>T p.A432V missense 0.00006629●●●●●●
112. 236907974 c.1304C>T p.T435I missense 0.00002482●●●●●●
113. 236907976 c.1306G>T p.E436X nonsense 0.00003310●●●●●●
114. 236907977 c.1307A>C p.E436A missense 0.00005791●●●●●●
115. 236907977 c.1307A>T p.E436V missense 0.00003309●●●●●●
116. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
117. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
118. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
119. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
120. 236907995 c.1325G>A p.R442Q missense 0.00002482●●●●●●
121. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
122. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
123. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
124. 236908007 c.1337C>T p.A446V missense 0.00001654●●●●●●
125. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
126. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
127. 236908018 c.1348G>A p.D450N missense 0.00002481●●●●●●
128. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
129. 236908028 c.1358C>T p.A453V missense 0.00004135●●●●●●
130. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
131. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
132. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
133. 236908054 c.1384G>T p.A462S missense 0.00001655●●●●●●
134. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
135. 236908063 c.1393G>A p.A465T missense 0.00001656●●●●●●
136. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
137. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
138. 236910975 c.1415A>T p.D472V missense 0.00000849●●●●●●
139. 236910986 c.1426G>T p.A476S missense 0.00007530●●●●●●
140. 236910993 c.1433A>T p.N478I missense 0.00004167●●●●●●
141. 236911004 c.1444C>T p.R482W missense 0.00007480●●●●●●
142. 236911005 c.1445G>A p.R482Q missense 0.00002493●●●●●●
143. 236911035 c.1475G>A p.R492Q missense 0.00000840●●●●●●
144. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
145. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
146. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
147. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
148. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
149. 236912460 c.1552C>T p.H518Y missense 0.00003296●●●●●●
150. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
151. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
152. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
153. 236912494 c.1586A>G p.N529S missense 0.00004119●●●●●●
154. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
155. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
156. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
157. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
158. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
159. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
160. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
161. 236912532 c.1624A>G p.M542V missense 0.00003295●●●●●●
162. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
163. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
164. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
165. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
166. 236914821 c.1708G>A p.G570R missense 0.00005771●●●●●●
167. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
168. 236914827 c.1714C>T p.R572W missense 0.00004946●●●●●●
169. 236914828 c.1715G>A p.R572Q missense 0.00003297●●●●●●
170. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
171. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
172. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
173. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824●●●●●●
174. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
175. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
176. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
177. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
178. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
179. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
180. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
181. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
182. 236914936 c.1823G>A p.R608Q missense 0.00007414●●●●●●
183. 236914938 c.1825A>C p.T609P missense 0.00003295●●●●●●
184. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
185. 236917269 c.1862G>A p.R621H missense 0.00002474●●●●●●
186. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
187. 236917299 c.1892G>A p.R631H missense 0.00006607●●●●●●
188. 236917313 c.1906G>A p.E636K missense 0.00001654●●●●●●
189. 236917316 c.1909C>T p.R637C missense 0.00004135●●●●●●
190. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
191. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
192. 236917352 c.1945A>G p.I649V missense 0.00002485●●●●●●
193. 236917353 c.1946T>C p.I649T missense 0.00001657●●●●●●
194. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
195. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
196. 236917376 c.1969A>T p.M657L missense 0.00000831●●●●●●
197. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
198. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
199. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
200. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
201. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
202. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
203. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
204. 236918395 c.2051A>G p.N684S missense 0.00002472●●●●●●
205. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824●●●●●●
206. 236918412 c.2068_2070delAAC p.Asn690del inframe 0.00002472●●●●●●
207. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
208. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
209. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
210. 236918426 c.2082G>C p.K694N missense 0.00003298●●●●●●
211. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
212. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
213. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
214. 236918452 c.2108A>T p.Q703L missense 0.00003302●●●●●●
215. 236918473 c.2129A>G p.N710S missense 0.00003310●●●●●●
216. 236918482 c.2138C>T p.T713M missense 0.00001657●●●●●●
217. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
218. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
219. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
220. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
221. 236920825 c.2194G>A p.A732T missense 0.00004118●●●●●●
222. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
223. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
224. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
225. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
226. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
227. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
228. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
229. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
230. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
231. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
232. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
233. 236920909 c.2278G>A p.A760T missense 0.00004118●●●●●●
234. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
235. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
236. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
237. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
238. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
239. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
240. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
241. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
242. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
243. 236924360 c.2413G>A p.G805R missense 0.00003295●●●●●●
244. 236924363 c.2416C>T p.Q806X nonsense 0.00000824●●●●●●
245. 236924370 c.2423C>T p.T808I missense 0.00006591●●●●●●
246. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
247. 236924372 c.2425G>A p.V809I missense 0.00003296●●●●●●
248. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
249. 236924396 c.2449T>C p.F817L missense 0.00002472●●●●●●
250. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
251. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
252. 236924429 c.2482G>A p.A828T missense 0.00001650●●●●●●
253. 236924430 c.2483C>T p.A828V missense 0.00003301●●●●●●
254. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
255. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
256. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
257. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
258. 236924454 c.2507G>A p.R836Q missense 0.00004132●●●●●●
259. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
260. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
261. 236925774 c.2540C>T p.A847V missense 0.00005783●●●●●●
262. 236925786 c.2552G>A p.R851H missense 0.00004954●●●●●●
263. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
264. 236925789 c.2555G>A p.R852Q missense 0.00006604●●●●●●
265. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
266. 236925801 c.2567C>T p.P856L missense 0.00004953●●●●●●
267. 236925803 c.2569G>C p.D857H missense 0.00003301●●●●●●
268. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
269. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
270. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
271. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
272. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
273. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
274. 236925836 c.2602G>A p.A868T missense 0.00004954●●●●●●
275. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
276. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
277. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
278. 236925863 c.2629G>T p.G877C missense 0.00001655●●●●●●
279. 236925878 c.2644G>A p.A882T missense 0.00001663●●●●●●
280. 236925882 c.2648C>T p.A883V missense 0.00001667●●●●●●
281. 236925890 c.2656T>C p.S886P missense 0.00000836●●●●●●
282. 236925902 c.2668G>A p.G890R missense 0.00002553●●●●●●
283. 236925911 c.2677G>T p.D893Y missense 0.00000866●●●●●●
284. 236925912 c.2678A>G p.D893G missense 0.00003463●●●●●●

* 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.