PSEN2 variants in ExAC

PSEN2 gene summary
PSEN2 variants in

The table below lists the PSEN2 variants found in the ExAC population database. 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. 227071449 c.185G>A p.R62H missense 0.00989723●●●●●●
2. 227071475 c.211C>T p.R71W missense 0.00335725●●●●●●
3. 227073271 c.389C>T p.S130L missense 0.00064385●●●●●●
4. 227075813 c.520A>G p.M174V missense 0.00063428●●●●●●
5. 227069708 c.100G>A p.G34S missense 0.00047177●●●●●●
6. 227071426 c.162G>C p.E54D missense 0.00028323●●●●●●
7. 227076717 c.754G>A p.A252T missense 0.00025121●●●●●●
8. 227076744 c.781G>C p.V261L missense 0.00023088●●●●●●
9. 227071413 c.149A>G p.Q50R missense 0.00022046●●●●●●
10. 227083236 c.1303C>T p.R435W missense 0.00020689●●●●●●
11. 227076603 c.640G>T p.V214L missense 0.00018947●●●●●●
12. 227071430 c.166G>A p.G56S missense 0.00018284●●●●●●
13. 227071448 c.184C>T p.R62C missense 0.00016525●●●●●●
14. 227075798 c.505C>A p.H169N missense 0.00016475●●●●●●
15. 227081812 c.1177G>A p.V393M missense 0.00013235●●●●●●
16. 227076735 c.772G>A p.A258T missense 0.00011240●●●●●●
17. 227073297 c.415G>A p.V139M missense 0.00010789●●●●●●
18. 227083263 c.1330C>T p.H444Y missense 0.00010025●●●●●●
19. 227081837 c.1191+11G>A splice site 0.00009951●●●●●●
20. 227077825 c.877A>T p.I293L missense 0.00009884●●●●●●
21. 227071469 c.205C>G p.P69A missense 0.00009078●●●●●●
22. 227081774 c.1139C>A p.T380K missense 0.00007442●●●●●●
23. 227079065 c.970+3G>T splice site 0.00006964●●●●●●
24. 227078994 c.902C>T p.T301M missense 0.00006023●●●●●●
25. 227081765 c.1130C>T p.A377V missense 0.00005796●●●●●●
26. 227081798 c.1163C>T p.T388M missense 0.00005788●●●●●●
27. 227076673 c.710C>T p.A237V missense 0.00005775●●●●●●
28. 227071472 c.208G>A p.G70R missense 0.00005775●●●●●●
29. 227078993 c.901A>T p.T301S missense 0.00005161●●●●●●
30. 227079474 c.1001C>G p.P334R missense 0.00004943●●●●●●
31. 227076758 c.787+8G>A splice site 0.00004680●●●●●●
32. 227083237 c.1304G>A p.R435Q missense 0.00004529●●●●●●
33. 227076732 c.769G>A p.G257S missense 0.00004287●●●●●●
34. 227076718 c.755C>T p.A252V missense 0.00004195●●●●●●
35. 227081713 c.1078G>A p.V360M missense 0.00004125●●●●●●
36. 227083249 c.1316A>C p.D439A missense 0.00003764●●●●●●
37. 227083234 c.1301T>G p.V434G missense 0.00003576●●●●●●
38. 227079029 c.937G>A p.G313S missense 0.00003557●●●●●●
39. 227083222 c.1289C>T p.T430M missense 0.00003481●●●●●●
40. 227071628 c.356+8_356+10delGGG splice site 0.00003401●●●●●●
41. 227083195 c.1262C>T p.T421M missense 0.00003378●●●●●●
42. 227071593 c.329G>A p.R110H missense 0.00003316●●●●●●
43. 227069688 c.80C>T p.T27M missense 0.00003307●●●●●●
44. 227069657 c.49C>T p.R17W missense 0.00003297●●●●●●
45. 227083240 c.1307C>A p.P436Q missense 0.00002731●●●●●●
46. 227073233 c.357-6C>G splice site 0.00002615●●●●●●
47. 227069694 c.86G>A p.R29H missense 0.00002482●●●●●●
48. 227069693 c.85C>T p.R29C missense 0.00002481●●●●●●
49. 227073370 c.488G>A p.R163H missense 0.00002480●●●●●●
50. 227069661 c.53C>T p.T18M missense 0.00002473●●●●●●
51. 227076555 c.592G>T p.A198S missense 0.00002472●●●●●●
52. 227079465 c.992T>C p.F331S missense 0.00002471●●●●●●
53. 227079050 c.958G>A p.D320N missense 0.00002016●●●●●●
54. 227079048 c.956A>G p.Y319C missense 0.00001980●●●●●●
55. 227083240 c.1307C>T p.P436L missense 0.00001820●●●●●●
56. 227073234 c.357-5C>G splice site 0.00001740●●●●●●
57. 227069742 c.134C>T p.A45V missense 0.00001676●●●●●●
58. 227073265 c.383C>T p.T128I missense 0.00001676●●●●●●
59. 227083168 c.1235C>T p.A412V missense 0.00001672●●●●●●
60. 227073281 c.399G>C p.Q133H missense 0.00001667●●●●●●
61. 227073283 c.401G>A p.R134H missense 0.00001666●●●●●●
62. 227073301 c.419T>C p.L140P missense 0.00001658●●●●●●
63. 227081834 c.1191+8G>C splice site 0.00001658●●●●●●
64. 227073306 c.424A>T p.T142S missense 0.00001657●●●●●●
65. 227069691 c.83C>T p.P28L missense 0.00001654●●●●●●
66. 227073342 c.460A>G p.I154V missense 0.00001653●●●●●●
67. 227081791 c.1156A>C p.N386H missense 0.00001653●●●●●●
68. 227069685 c.77C>T p.P26L missense 0.00001653●●●●●●
69. 227069678 c.70G>A p.E24K missense 0.00001652●●●●●●
70. 227071458 c.194G>A p.C65Y missense 0.00001651●●●●●●
71. 227081709 c.1074G>A splice site 0.00001650●●●●●●
72. 227076675 c.712C>T p.L238F missense 0.00001650●●●●●●
73. 227071469 c.205C>A p.P69T missense 0.00001650●●●●●●
74. 227071469 c.205C>T p.P69S missense 0.00001650●●●●●●
75. 0 c.-20-4C>T splice site 0.00001649●●●●●●
76. 227069634 c.26G>A p.S9N missense 0.00001649●●●●●●
77. 227071500 c.236T>C p.L79P missense 0.00001649●●●●●●
78. 227076552 c.589G>A p.V197M missense 0.00001648●●●●●●
79. 227075785 c.499-7T>C splice site 0.00001648●●●●●●
80. 227076568 c.605C>T p.P202L missense 0.00001648●●●●●●
81. 227076646 c.683A>T p.Q228L missense 0.00001648●●●●●●
82. 227079518 c.1045G>A p.G349R missense 0.00001648●●●●●●
83. 227075847 c.554A>G p.Y185C missense 0.00001648●●●●●●
84. 227079473 c.1000C>A p.P334T missense 0.00001648●●●●●●
85. 227075822 c.529C>G p.L177V missense 0.00001647●●●●●●
86. 227079057 c.965A>G p.E322G missense 0.00001076●●●●●●
87. 227083275 c.1342A>G p.I448V missense 0.00001062●●●●●●
88. 227079050 c.958G>C p.D320H missense 0.00001008●●●●●●
89. 227076757 c.787+7G>A splice site 0.00000933●●●●●●
90. 227083227 c.1294A>C p.N432H missense 0.00000879●●●●●●
91. 227083226 c.1293C>A p.D431E missense 0.00000879●●●●●●
92. 227079020 c.928T>C p.S310P missense 0.00000875●●●●●●
93. 227073235 c.357-4T>C splice site 0.00000868●●●●●●
94. 227079006 c.914C>T p.A305V missense 0.00000863●●●●●●
95. 227079006 c.914C>A p.A305E missense 0.00000863●●●●●●
96. 227078980 c.888T>C splice site 0.00000862●●●●●●
97. 227076733 c.770G>T p.G257V missense 0.00000859●●●●●●
98. 227083212 c.1279T>C p.Y427H missense 0.00000857●●●●●●
99. 227073247 c.365C>T p.T122M missense 0.00000850●●●●●●
100. 227083199 c.1266C>G p.F422L missense 0.00000846●●●●●●
101. 227076723 c.760G>A p.V254I missense 0.00000845●●●●●●
102. 227071627 c.356+7_356+14delTGGGGGGC splice site 0.00000842●●●●●●
103. 227071418 c.154A>G p.N52D missense 0.00000842●●●●●●
104. 227071421 c.157_168delGAGGAGGACGGT p.Glu53_Gly56del inframe 0.00000840●●●●●●
105. 227076718 c.755C>G p.A252G missense 0.00000839●●●●●●
106. 227069744 c.136C>T p.Q46X nonsense 0.00000839●●●●●●
107. 227083119 c.1192-6C>T splice site 0.00000838●●●●●●
108. 227083173 c.1240C>T p.P414S missense 0.00000837●●●●●●
109. 227083162 c.1229A>G p.K410R missense 0.00000835●●●●●●
110. 227083165 c.1232A>G p.K411R missense 0.00000835●●●●●●
111. 227083141 c.1208T>A p.L403H missense 0.00000834●●●●●●
112. 227083138 c.1205C>T p.T402I missense 0.00000834●●●●●●
113. 227083153 c.1220C>A p.A407D missense 0.00000834●●●●●●
114. 227073283 c.401G>T p.R134L missense 0.00000833●●●●●●
115. 227073292 c.410A>G p.N137S missense 0.00000831●●●●●●
116. 227073297 c.415G>T p.V139L missense 0.00000830●●●●●●
117. 227071593 c.329G>T p.R110L missense 0.00000829●●●●●●
118. 227076702 c.739C>T p.L247F missense 0.00000829●●●●●●
119. 227076699 c.736T>C p.Y246H missense 0.00000828●●●●●●
120. 227081824 c.1189A>C p.I397L missense 0.00000828●●●●●●
121. 227073312 c.430A>C p.I144L missense 0.00000828●●●●●●
122. 227069702 c.94C>G p.Q32E missense 0.00000828●●●●●●
123. 227071587 c.323C>G p.S108C missense 0.00000828●●●●●●
124. 227069690 c.82C>A p.P28T missense 0.00000827●●●●●●
125. 227081783 c.1148G>A p.G383E missense 0.00000827●●●●●●
126. 227069687 c.79A>G p.T27A missense 0.00000827●●●●●●
127. 227073377 c.495C>G p.Y165X nonsense 0.00000827●●●●●●
128. 227073351 c.469G>A p.V157M missense 0.00000827●●●●●●
129. 227073321 c.439A>G p.S147G missense 0.00000827●●●●●●
130. 227081781 c.1146_1147insG p.Asp384GlyfsTer91 frameshift 0.00000827●●●●●●
131. 227073351 c.469G>T p.V157L missense 0.00000827●●●●●●
132. 227069697 c.89C>T p.S30F missense 0.00000827●●●●●●
133. 227073364 c.482A>G p.K161R missense 0.00000827●●●●●●
134. 227073349 c.467T>G p.L156W missense 0.00000827●●●●●●
135. 227081788 c.1153T>A p.W385R missense 0.00000826●●●●●●
136. 227071556 c.292T>C p.C98R missense 0.00000826●●●●●●
137. 227071460 c.196A>T p.S66C missense 0.00000826●●●●●●
138. 227076692 c.729C>G p.F243L missense 0.00000826●●●●●●
139. 227071560 c.296T>C p.M99T missense 0.00000826●●●●●●
140. 227071461 c.197G>A p.S66N missense 0.00000826●●●●●●
141. 227081756 c.1121T>C p.V374A missense 0.00000826●●●●●●
142. 227071526 c.262G>C p.V88L missense 0.00000825●●●●●●
143. 227079542 c.1069_1070insA p.Arg358LysfsTer117 frameshift 0.00000825●●●●●●
144. 227071482 c.218C>G p.P73R missense 0.00000825●●●●●●
145. 227071469 c.205delC p.Arg71GlyfsTer9 frameshift 0.00000825●●●●●●
146. 227081711 c.1076G>C p.G359A missense 0.00000825●●●●●●
147. 227079550 c.1072+5G>T splice site 0.00000825●●●●●●
148. 227071476 c.212G>T p.R71L missense 0.00000825●●●●●●
149. 227081703 c.1073-5C>T splice site 0.00000825●●●●●●
150. 0 c.-20-6T>C splice site 0.00000825●●●●●●
151. 227076681 c.718G>T p.A240S missense 0.00000825●●●●●●
152. 227071476 c.212G>A p.R71Q missense 0.00000825●●●●●●
153. 227071470 c.206C>G p.P69R missense 0.00000825●●●●●●
154. 227071467 c.203T>C p.V68A missense 0.00000825●●●●●●
155. 227071518 c.254C>T p.A85V missense 0.00000825●●●●●●
156. 227077762 c.814G>A p.G272R missense 0.00000824●●●●●●
157. 227079485 c.1012G>A p.E338K missense 0.00000824●●●●●●
158. 227076655 c.692_693insC p.Leu232ProfsTer32 frameshift 0.00000824●●●●●●
159. 227077820 c.872C>T p.A291V missense 0.00000824●●●●●●
160. 227079497 c.1024C>T p.P342S missense 0.00000824●●●●●●
161. 227075817 c.524C>G p.S175C missense 0.00000824●●●●●●
162. 227077828 c.880T>C p.Y294H missense 0.00000824●●●●●●
163. 227079473 c.1000C>G p.P334A missense 0.00000824●●●●●●
164. 227076637 c.674T>C p.L225P missense 0.00000824●●●●●●
165. 227069646 c.38T>G p.V13G missense 0.00000824●●●●●●
166. 227079446 c.973G>T p.E325X nonsense 0.00000824●●●●●●
167. 227077765 c.817C>A p.P273T missense 0.00000824●●●●●●
168. 227077734 c.788-2A>T essential splice site 0.00000824●●●●●●
169. 227076553 c.590T>A p.V197E missense 0.00000824●●●●●●
170. 227075783 c.499-9G>A splice site 0.00000824●●●●●●
171. 227077802 c.854A>G p.N285S missense 0.00000824●●●●●●
172. 227079515 c.1042C>G p.P348A missense 0.00000824●●●●●●
173. 227069610 c.2T>C p.Met1? missense 0.00000824●●●●●●
174. 227076662 c.699C>G p.I233M missense 0.00000824●●●●●●
175. 227079470 c.997G>C p.E333Q missense 0.00000824●●●●●●
176. 227077789 c.841G>T p.A281S missense 0.00000824●●●●●●
177. 227079442 c.971-2A>G essential splice site 0.00000824●●●●●●
178. 227076596 c.633C>A p.F211L missense 0.00000824●●●●●●
179. 227076655 c.692A>G p.Y231C missense 0.00000824●●●●●●
180. 227076597 c.634G>A p.G212R missense 0.00000824●●●●●●
181. 227075849 c.556_557insT p.Tyr187LeufsTer77 frameshift 0.00000824●●●●●●
182. 227076550 c.587A>G p.N196S missense 0.00000824●●●●●●
183. 227071515 c.251G>A p.G84E missense 0.00000824●●●●●●
184. 227077822 c.874C>G p.L292V missense 0.00000824●●●●●●
185. 227079456 c.983_984insT p.Asp329Ter frameshift 0.00000824●●●●●●
186. 227076603 c.640G>A p.V214M missense 0.00000824●●●●●●
187. 227069644 c.36A>T p.E12D missense 0.00000824●●●●●●
188. 227076558 c.595A>C p.M199L missense 0.00000824●●●●●●
189. 227079525 c.1052A>G p.E351G missense 0.00000824●●●●●●
190. 227075859 c.566G>C p.G189A missense 0.00000824●●●●●●
191. 227077741 c.793G>A p.V265M 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.