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. 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. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
25. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
26. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
27. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
28. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
29. 236891016 c.575G>A p.R192Q 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. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
64. 236907995 c.1325G>A p.R442Q missense 0.00002482●●●●●●
65. 236907974 c.1304C>T p.T435I 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. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
73. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
74. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
75. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
76. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
77. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
78. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
79. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
80. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
81. 236918329 c.1985G>A p.R662Q 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. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
108. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
109. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
110. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
111. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
112. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
113. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
114. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
115. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
116. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
117. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
118. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
119. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
120. 236906244 c.1156G>A p.E386K 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. 236907936 c.1266G>C p.Q422H missense 0.00000834●●●●●●
137. 236902815 c.1090G>A p.E364K 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. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
154. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
155. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
156. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
157. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
158. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
159. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
160. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
161. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
162. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
163. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
164. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
165. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
166. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
167. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
168. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
169. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
170. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
171. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
172. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
173. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
174. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
175. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
176. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
177. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
178. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
179. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
180. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
181. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
182. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
183. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
184. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
185. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
186. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
187. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
188. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
189. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
190. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
191. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
192. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
193. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
194. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
195. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
196. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
197. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
198. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
199. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
200. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
201. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
202. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
203. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
204. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
205. 236902719 c.994C>T p.P332S missense 0.00000824●●●●●●
206. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
207. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
208. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
209. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
210. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
211. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
212. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
213. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
214. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
215. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
216. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824●●●●●●
217. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
218. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
219. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
220. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
221. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
222. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
223. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
224. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
225. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
226. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
227. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
228. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
229. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
230. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
231. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
232. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
233. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
234. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
235. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
236. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
237. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
238. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
239. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
240. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
241. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824●●●●●●
242. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
243. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
244. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
245. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
246. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
247. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
248. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
249. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
250. 236924363 c.2416C>T p.Q806X nonsense 0.00000824●●●●●●
251. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
252. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
253. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
254. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
255. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
256. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
257. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
258. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
259. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
260. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
261. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
262. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
263. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
264. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
265. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
266. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
267. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
268. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
269. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
270. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
271. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
272. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
273. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
274. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
275. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
276. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
277. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
278. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
279. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
280. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
281. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
282. 236889294 c.510delT p.Asn170LysfsTer2 frameshift 0.00000824●●●●●●
283. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
284. 236902734 c.1009G>C p.E337Q 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.