LDB3 protein-altering variants in ExAC


The table below lists the LDB3 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. 88428539 c.91C>T p.R31W missense 0.00005898
2. 88428502 c.54G>T p.Q18H missense 0.00003337
3. 88428479 c.31G>A p.G11R missense 0.00000833
4. 88441227 c.356C>T p.A119V missense 0.00000859
5. 88485941 c.2026G>A p.V676M missense 0.00003296
6. 88439175 c.145G>A p.V49M missense 0.00002473
7. 88439175 c.145G>C p.V49L missense 0.00002473
8. 88439190 c.160G>A p.G54S missense 0.00004122
9. 88439847 c.254G>A p.R85H missense 0.00001649
10. 88439889 c.296C>T p.P99L missense 0.00001652
11. 88441266 c.395C>T p.T132I missense 0.00001718
12. 88441269 c.398C>T p.P133L missense 0.00003433
13. 88441286 c.415A>G p.R139G missense 0.00000858
14. 88441293 c.422C>T p.T141I missense 0.00001714
15. 88441299 c.428G>T p.S143I missense 0.00000857
16. 88441365 c.494G>A p.R165Q missense 0.00002590
17. 88441397 c.526G>A p.G176R missense 0.00006840
18. 88441404 c.533G>A p.R178Q missense 0.00003408
19. 88441415 c.544G>A p.G182S missense 0.00002538
20. 88441479 c.608C>T p.S203L missense 0.00002530
21. 88441506 c.635A>T p.Q212L missense 0.00000860
22. 88441539 c.668C>T p.S223L missense 0.00003519
23. 88451673 c.710T>G p.L237R missense 0.00000825
24. 88451676 c.713C>A p.A238D missense 0.00001649
25. 88451705 c.742G>A p.A248T missense 0.00000824
26. 88451727 c.764A>G p.K255R missense 0.00000824
27. 88451732 c.769G>C p.E257Q missense 0.00005771
28. 88451747 c.784G>A p.E262K missense 0.00000825
29. 88451753 c.790G>A p.A264T missense 0.00000825
30. 88451780 c.817C>T p.R273C missense 0.00002476
31. 88451792 c.829A>T p.I277F missense 0.00001652
32. 88451808 c.845C>T p.T282M missense 0.00002486
33. 88452319 c.887G>A p.R296Q missense 0.00002471
34. 88466335 c.944C>T p.P315L missense 0.00004190
35. 88466346 c.955G>A p.A319T missense 0.00007544
36. 88466361 c.970C>T p.P324S missense 0.00000839
37. 88466383 c.992C>T p.A331V missense 0.00009239
38. 88466427 c.1036G>A p.A346T missense 0.00009476
39. 88469691 c.1115T>C p.V372A missense 0.00001705
40. 88476108 c.1256C>A p.S419Y missense 0.00001672
41. 88476121 c.1269T>G p.N423K missense 0.00000838
42. 88476126 c.1274G>A p.S425N missense 0.00000840
43. 88476140 c.1288A>G p.T430A missense 0.00001807
44. 88476164 c.1312A>G p.T438A missense 0.00008327
45. 88476189 c.1337C>A p.T446N missense 0.00007335
46. 88476249 c.1397C>T p.A466V missense 0.00000830
47. 88476287 c.1435G>A p.G479R missense 0.00007445
48. 88476291 c.1439G>A p.G480D missense 0.00000827
49. 88476324 c.1472T>A p.V491E missense 0.00003305
50. 88476338 c.1486T>G p.F496V missense 0.00002479
51. 88476339 c.1487T>C p.F496S missense 0.00008264
52. 88476372 c.1520C>A p.T507N missense 0.00001654
53. 88476491 c.1639C>T p.R547W missense 0.00006774
54. 88476492 c.1640G>A p.R547Q missense 0.00009751
55. 88476519 c.1667A>G p.N556S missense 0.00001248
56. 88476527 c.1675C>T p.R559W missense 0.00008256
57. 88477780 c.1736A>G p.Y579C missense 0.00000824
58. 88477867 c.1823C>T p.P608L missense 0.00009061
59. 88478536 c.1910C>T p.A637V missense 0.00006594
60. 88478583 c.1957G>A p.G653R missense 0.00003303
61. 88478583 c.1957G>C p.G653R missense 0.00001652
62. 88478584 c.1958G>A p.G653E missense 0.00000826
63. 88476294 c.1442C>G p.P481R missense 0.00008270
64. 88439873 c.280C>A p.P94T missense 0.00003299
65. 88441209 c.338C>T p.T113M missense 0.00002577
66. 88441280 c.409G>A p.E137K missense 0.00000858
67. 88441527 c.656G>A p.R219Q missense 0.00005228
68. 88451696 c.733G>A p.V245I missense 0.00000824
69. 88466305 c.914C>G p.A305G missense 0.00000839
70. 88466466 c.1075G>A p.D359N missense 0.00006983
71. 88469706 c.1130C>T p.A377V missense 0.00001702
72. 88469742 c.1166C>G p.A389G missense 0.00000858
73. 88476144 c.1292C>A p.P431H missense 0.00000905
74. 88476266 c.1414G>C p.A472P missense 0.00000828
75. 88476282 c.1430A>G p.Y477C missense 0.00009100
76. 88478530 c.1904T>G p.V635G missense 0.00005769
77. 88492705 c.2156A>C p.K719T missense 0.00000887
78. 88492712 c.2163C>A p.H721Q missense 0.00000896
79. 88428459 c.11G>A p.S4N missense 0.00000833
80. 88428461 c.13G>A p.V5M missense 0.00001665
81. 88428491 c.43T>C p.F15L missense 0.00000833
82. 88428503 c.55G>C p.G19R missense 0.00000834
83. 88428504 c.56G>C p.G19A missense 0.00001668
84. 88428524 c.76C>T p.P26S missense 0.00000837
85. 88439127 c.97A>T p.T33S missense 0.00000825
86. 88439142 c.112G>A p.A38T missense 0.00000824
87. 88439166 c.136G>T p.G46C missense 0.00000824
88. 88439197 c.167A>G p.N56S missense 0.00000824
89. 88439208 c.178A>T p.M60L missense 0.00000825
90. 88439211 c.181A>C p.T61P missense 0.00000825
91. 88439214 c.184C>T p.H62Y missense 0.00000825
92. 88439242 c.212C>G p.S71C missense 0.00000826
93. 88439846 c.253C>T p.R85C missense 0.00002474
94. 88439865 c.272C>T p.T91M missense 0.00003299
95. 88439874 c.281C>T p.P94L missense 0.00001650
96. 88439883 c.290A>G p.Q97R missense 0.00000825
97. 88441199 c.328G>A p.A110T missense 0.00001716
98. 88441214 c.343G>C p.G115R missense 0.00002577
99. 88441215 c.344G>A p.G115D missense 0.00007732
100. 88441229 c.358C>A p.P120T missense 0.00001719
101. 88441239 c.368G>A p.S123N missense 0.00001718
102. 88441244 c.373G>A p.E125K missense 0.00001718
103. 88441248 c.377C>G p.A126G missense 0.00000859
104. 88441268 c.397C>T p.P133S missense 0.00000858
105. 88441278 c.407C>T p.P136L missense 0.00003433
106. 88441283 c.412C>G p.L138V missense 0.00002574
107. 88441289 c.418C>G p.P140A missense 0.00000859
108. 88441304 c.433G>T p.A145S missense 0.00000858
109. 88441314 c.443G>A p.R148Q missense 0.00001718
110. 88441322 c.451G>A p.A151T missense 0.00001719
111. 88441340 c.469G>A p.E157K missense 0.00000862
112. 88441340 c.469G>C p.E157Q missense 0.00003448
113. 88441343 c.472G>T p.A158S missense 0.00000862
114. 88441343 c.472G>A p.A158T missense 0.00000862
115. 88441362 c.491C>T p.P164L missense 0.00001731
116. 88441367 c.496G>T p.A166S missense 0.00000863
117. 88441379 c.508G>A p.A170T missense 0.00001720
118. 88441380 c.509C>T p.A170V missense 0.00000860
119. 88441384 c.513G>T p.K171N missense 0.00000859
120. 88441391 c.520C>T p.P174S missense 0.00000857
121. 88441396 c.525G>C p.E175D missense 0.00001711
122. 88441403 c.532C>G p.R178G missense 0.00006825
123. 88441403 c.532C>T p.R178W missense 0.00000853
124. 88441421 c.550A>G p.K184E missense 0.00008435
125. 88441428 c.557T>C p.L186P missense 0.00000842
126. 88441431 c.560C>A p.P187Q missense 0.00001682
127. 88441446 c.575C>T p.P192L missense 0.00001672
128. 88441452 c.581A>T p.Q194L missense 0.00005846
129. 88441453 c.582A>C p.Q194H missense 0.00001670
130. 88441485 c.614A>C p.E205A missense 0.00000846
131. 88441486 c.615G>C p.E205D missense 0.00001695
132. 88441490 c.619C>G p.L207V missense 0.00000849
133. 88441496 c.625G>C p.E209Q missense 0.00000853
134. 88441517 c.646A>T p.M216L missense 0.00002596
135. 88441547 c.676G>A p.G226R missense 0.00005316
136. 88451658 c.695T>G p.L232R missense 0.00000825
137. 88451663 c.700A>G p.I234V missense 0.00000825
138. 88451664 c.701T>A p.I234N missense 0.00000825
139. 88451678 c.715G>T p.V239L missense 0.00000825
140. 88451687 c.724G>A p.A242T missense 0.00004123
141. 88451741 c.778G>A p.A260T missense 0.00000824
142. 88451759 c.796C>T p.R266C missense 0.00000825
143. 88451760 c.797G>A p.R266H missense 0.00001649
144. 88451763 c.800C>T p.S267F missense 0.00000825
145. 88451781 c.818G>A p.R273H missense 0.00000825
146. 88451789 c.826C>T p.R276C missense 0.00000826
147. 88451790 c.827G>A p.R276H missense 0.00000826
148. 88452300 c.868C>A p.P290T missense 0.00000824
149. 88452301 c.869C>T p.P290L missense 0.00000824
150. 88452328 c.896G>A p.S299N missense 0.00000824
151. 88466296 c.905T>C p.I302T missense 0.00003355
152. 88466305 c.914C>A p.A305E missense 0.00001677
153. 88466331 c.940A>G p.T314A missense 0.00001676
154. 88466358 c.967C>T p.P323S missense 0.00000839
155. 88466362 c.971C>T p.P324L missense 0.00000839
156. 88466382 c.991G>A p.A331T missense 0.00001680
157. 88466383 c.992C>A p.A331E missense 0.00000840
158. 88466388 c.997T>A p.S333T missense 0.00000840
159. 88466392 c.1001C>A p.P334Q missense 0.00004202
160. 88466407 c.1016C>G p.A339G missense 0.00000843
161. 88466409 c.1018G>C p.A340P missense 0.00003373
162. 88466418 c.1027A>G p.T343A missense 0.00000849
163. 88466457 c.1066A>C p.S356R missense 0.00000933
164. 88469670 c.1094C>T p.A365V missense 0.00000850
165. 88469696 c.1120G>A p.A374T missense 0.00000851
166. 88469709 c.1133C>T p.P378L missense 0.00000851
167. 88469723 c.1147A>G p.S383G missense 0.00000853
168. 88469729 c.1153A>G p.S385G missense 0.00000854
169. 88469736 c.1160G>T p.G387V missense 0.00000859
170. 88469763 c.1187G>A p.R396Q missense 0.00000863
171. 88469786 c.1210C>G p.R404G missense 0.00000874
172. 88469786 c.1210C>T p.R404W missense 0.00000874
173. 88469796 c.1220T>C p.V407A missense 0.00001765
174. 88476105 c.1253C>T p.P418L missense 0.00000836
175. 88476140 c.1288A>T p.T430S missense 0.00000903
176. 88476141 c.1289C>A p.T430N missense 0.00000878
177. 88476141 c.1289C>T p.T430I missense 0.00001755
178. 88476164 c.1312A>C p.T438P missense 0.00002082
179. 88476165 c.1313C>A p.T438N missense 0.00003831
180. 88476168 c.1316C>T p.P439L missense 0.00002106
181. 88476173 c.1321C>T p.P441S missense 0.00002011
182. 88476213 c.1361C>T p.T454I missense 0.00000872
183. 88476224 c.1372G>A p.A458T missense 0.00000846
184. 88476225 c.1373C>G p.A458G missense 0.00000843
185. 88476234 c.1382A>C p.Y461S missense 0.00001671
186. 88476237 c.1385C>T p.T462I missense 0.00000834
187. 88476255 c.1403A>G p.N468S missense 0.00002488
188. 88476263 c.1411C>T p.P471S missense 0.00008286
189. 88476270 c.1418C>A p.P473H missense 0.00000828
190. 88476279 c.1427C>T p.A476V missense 0.00000827
191. 88476290 c.1438G>A p.G480S missense 0.00000827
192. 88476297 c.1445C>T p.A482V missense 0.00002481
193. 88476317 c.1465C>T p.P489S missense 0.00000826
194. 88476323 c.1471G>A p.V491M missense 0.00000826
195. 88476332 c.1480G>A p.D494N missense 0.00000826
196. 88476345 c.1493A>G p.Q498R missense 0.00001653
197. 88476354 c.1502C>T p.A501V missense 0.00002479
198. 88476357 c.1505C>T p.P502L missense 0.00000826
199. 88476366 c.1514G>A p.S505N missense 0.00000827
200. 88476381 c.1529G>A p.S510N missense 0.00002482
201. 88476389 c.1537A>G p.T513A missense 0.00000828
202. 88476390 c.1538C>A p.T513N missense 0.00000828
203. 88476392 c.1540C>G p.L514V missense 0.00000828
204. 88476398 c.1546C>T p.R516W missense 0.00001658
205. 88476399 c.1547G>A p.R516Q missense 0.00001658
206. 88476399 c.1547G>T p.R516L missense 0.00000829
207. 88476453 c.1601G>T p.G534V missense 0.00000844
208. 88476489 c.1637G>A p.S546N missense 0.00000957
209. 88476506 c.1654G>A p.G552S missense 0.00004447
210. 88476506 c.1654G>C p.G552R missense 0.00001112
211. 88476507 c.1655G>T p.G552V missense 0.00001116
212. 88476528 c.1676G>A p.R559Q missense 0.00002780
213. 88477730 c.1686T>A p.F562L missense 0.00000825
214. 88477740 c.1696A>G p.M566V missense 0.00002473
215. 88477747 c.1703G>A p.R568H missense 0.00003296
216. 88477755 c.1711C>T p.H571Y missense 0.00000824
217. 88477758 c.1714C>A p.P572T missense 0.00002472
218. 88477785 c.1741A>C p.K581Q missense 0.00000824
219. 88477789 c.1745C>G p.T582S missense 0.00000824
220. 88477826 c.1782C>A p.N594K missense 0.00000824
221. 88477830 c.1786G>A p.V596I missense 0.00002471
222. 88477833 c.1789T>C p.Y597H missense 0.00000824
223. 88477833 c.1789T>A p.Y597N missense 0.00001647
224. 88477843 c.1799G>A p.R600Q missense 0.00003295
225. 88477887 c.1843A>G p.T615A missense 0.00000824
226. 88477888 c.1844C>G p.T615S missense 0.00001648
227. 88478484 c.1858G>A p.E620K missense 0.00000824
228. 88478511 c.1885T>C p.W629R missense 0.00001648
229. 88478520 c.1894A>G p.T632A missense 0.00000824
230. 88478529 c.1903G>T p.V635F missense 0.00000824
231. 88478539 c.1913C>A p.A638D missense 0.00000824
232. 88478545 c.1919A>G p.K640R missense 0.00000824
233. 88478564 c.1938C>A p.S646R missense 0.00000825
234. 88478580 c.1954G>C p.D652H missense 0.00000826
235. 88478589 c.1963C>A p.P655T missense 0.00000826
236. 88478598 c.1972G>A p.E658K missense 0.00003311
237. 88478599 c.1973A>G p.E658G missense 0.00000828
238. 88478599 c.1973A>C p.E658A missense 0.00000828
239. 88485915 c.2000C>T p.T667I missense 0.00001649
240. 88485917 c.2002A>G p.K668E missense 0.00000824
241. 88485944 c.2029G>A p.E677K missense 0.00000824
242. 88485964 c.2049C>G p.I683M missense 0.00000824
243. 88485965 c.2050G>A p.E684K missense 0.00004945
244. 88485977 c.2062C>T p.H688Y missense 0.00000824
245. 88485989 c.2074G>A p.D692N missense 0.00002476
246. 88492651 c.2102A>G p.H701R missense 0.00000928
247. 88492653 c.2104G>T p.V702L missense 0.00000923
248. 88492666 c.2117G>T p.G706V missense 0.00000895
249. 88492672 c.2123C>T p.P708L missense 0.00000886
250. 88492675 c.2126T>C p.F709S missense 0.00001763
251. 88492680 c.2131T>G p.S711A missense 0.00000879
252. 88492699 c.2150T>G p.L717R missense 0.00006163
253. 88492723 c.2174T>A p.I725N missense 0.00002778
254. 88492723 c.2174T>C p.I725T missense 0.00003703
255. 88441526 c.655C>T p.R219X nonsense 0.00003486
256. 88452309 c.877G>T p.E293X nonsense 0.00000824
257. 88469728 c.1152C>A p.Y384X nonsense 0.00000854
258. 88476473 c.1621C>T p.R541X nonsense 0.00000881
259. 88477784 c.1740C>A p.C580X nonsense 0.00000824
260. 88477842 c.1798C>T p.R600X nonsense 0.00004942
261. 88492668 c.2119C>T p.Q707X nonsense 0.00000892
262. 88439915 c.321+1G>A essential splice site 0.00001679
263. 88441561 c.689+1G>A essential splice site 0.00000893
264. 88477720 c.1677-1G>A essential splice site 0.00001655
265. 88451707 c.744_745delTG p.Val249AspfsTer2 frameshift 0.00000824
266. 88451727 c.764_765insGCCAGAACAT p.Asp258HisfsTer5 frameshift 0.00000824
267. 88466336 c.945_972delGCTGCTGCCCGCTTCTGCCCAGCCACCT p.Ala319LeufsTer164 frameshift 0.00000838
268. 88466398 c.1007delT p.Leu336ArgfsTer156 frameshift 0.00002522
269. 88476368 c.1516delA p.Thr506ProfsTer59 frameshift 0.00000827
270. 88478508 c.1882delA p.Thr628HisfsTer75 frameshift 0.00000824
271. 88485941 c.2026delG p.Val676TrpfsTer27 frameshift 0.00000824
272. 88428461 c.13_14insTGACCC p.Val5_Thr6insThrLeu inframe 0.00002498
273. 88441258 c.387_395delCCCAGGCAC p.Pro130_Thr132del inframe 0.00003433
274. 88451731 c.768_770delAGA p.Glu257del inframe 0.00000824
275. 88492683 c.2134_2136delAAG p.Lys712del inframe 0.00001756

* 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.