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

* 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.