PTBP1 missense variants in ExAC

PTBP1 gene summary
PTBP1 variants in

The table below lists the PTBP1 missense 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. 804613 c.517G>A p.A173T missense 0.00145294●●●●●●
2. 805158 c.863C>T p.S288L missense 0.00074490●●●●●●
3. 804080 c.160G>A p.A54T missense 0.00043783●●●●●●
4. 810598 c.1519G>A p.V507I missense 0.00023194●●●●●●
5. 804086 c.166G>A p.V56I missense 0.00013217●●●●●●
6. 803625 c.104C>T p.S35L missense 0.00012375●●●●●●
7. 797504 c.7G>A p.G3S missense 0.00010708●●●●●●
8. 804599 c.503C>T p.A168V missense 0.00009561●●●●●●
9. 804602 c.506C>T p.A169V missense 0.00009535●●●●●●
10. 808438 c.1232A>G p.N411S missense 0.00007000●●●●●●
11. 804601 c.505G>C p.A169P missense 0.00006933●●●●●●
12. 806510 c.1073C>T p.A358V missense 0.00006166●●●●●●
13. 804437 c.434C>T p.A145V missense 0.00005976●●●●●●
14. 804699 c.603C>G p.H201Q missense 0.00005842●●●●●●
15. 805524 c.925G>C p.A309P missense 0.00005802●●●●●●
16. 808428 c.1222G>T p.A408S missense 0.00005400●●●●●●
17. 804583 c.487G>T p.A163S missense 0.00005244●●●●●●
18. 804608 c.512T>C p.V171A missense 0.00005161●●●●●●
19. 804371 c.368G>C p.G123A missense 0.00005015●●●●●●
20. 805079 c.784A>C p.S262R missense 0.00004954●●●●●●
21. 804572 c.476C>T p.S159L missense 0.00004423●●●●●●
22. 804298 c.295A>G p.I99V missense 0.00004193●●●●●●
23. 805088 c.793G>A p.V265I missense 0.00004127●●●●●●
24. 808570 c.1271A>G p.K424R missense 0.00003574●●●●●●
25. 808668 c.1369G>A p.G457S missense 0.00003441●●●●●●
26. 803634 c.113C>T p.A38V missense 0.00003301●●●●●●
27. 803603 c.82C>T p.P28S missense 0.00003299●●●●●●
28. 803594 c.73A>G p.T25A missense 0.00003299●●●●●●
29. 808578 c.1279G>A p.G427R missense 0.00003092●●●●●●
30. 804563 c.467C>T p.S156L missense 0.00002694●●●●●●
31. 808672 c.1373A>G p.N458S missense 0.00002576●●●●●●
32. 808549 c.1250T>G p.M417R missense 0.00002522●●●●●●
33. 804368 c.365G>A p.R122H missense 0.00002507●●●●●●
34. 810750 c.1598C>T p.A533V missense 0.00002499●●●●●●
35. 805539 c.940C>T p.P314S missense 0.00002487●●●●●●
36. 805513 c.914C>T p.A305V missense 0.00002487●●●●●●
37. 799427 c.23T>C p.I8T missense 0.00002481●●●●●●
38. 799424 c.20A>T p.D7V missense 0.00002481●●●●●●
39. 805127 c.832C>T p.P278S missense 0.00002478●●●●●●
40. 803611 c.90C>G p.I30M missense 0.00002475●●●●●●
41. 808593 c.1294A>C p.I432L missense 0.00002241●●●●●●
42. 806413 c.976T>C p.S326P missense 0.00002128●●●●●●
43. 806480 c.1043C>T p.A348V missense 0.00002058●●●●●●
44. 806494 c.1057G>A p.A353T missense 0.00002050●●●●●●
45. 808563 c.1264G>C p.G422R missense 0.00002035●●●●●●
46. 806455 c.1018C>T p.P340S missense 0.00002016●●●●●●
47. 804547 c.451C>G p.L151V missense 0.00001855●●●●●●
48. 808728 c.1429C>T p.P477S missense 0.00001767●●●●●●
49. 808572 c.1273C>G p.L425V missense 0.00001743●●●●●●
50. 804590 c.494C>G p.A165G missense 0.00001742●●●●●●
51. 804435 c.432G>C p.Q144H missense 0.00001707●●●●●●
52. 810786 c.1634A>G p.N545S missense 0.00001690●●●●●●
53. 810773 c.1621G>A p.D541N missense 0.00001679●●●●●●
54. 804334 c.331G>C p.V111L missense 0.00001673●●●●●●
55. 804370 c.367G>A p.G123S missense 0.00001671●●●●●●
56. 804387 c.384C>G p.I128M missense 0.00001671●●●●●●
57. 805187 c.892G>A p.G298S missense 0.00001665●●●●●●
58. 810738 c.1586A>C p.E529A missense 0.00001664●●●●●●
59. 805179 c.884C>T p.A295V missense 0.00001661●●●●●●
60. 804122 c.202A>G p.I68V missense 0.00001655●●●●●●
61. 804045 c.125A>G p.N42S missense 0.00001654●●●●●●
62. 799432 c.28G>A p.V10I missense 0.00001654●●●●●●
63. 804110 c.190C>T p.R64W missense 0.00001653●●●●●●
64. 804908 c.686C>T p.A229V missense 0.00001653●●●●●●
65. 805125 c.830G>A p.R277H missense 0.00001652●●●●●●
66. 803568 c.47C>T p.S16F missense 0.00001651●●●●●●
67. 803600 c.79G>A p.G27R missense 0.00001650●●●●●●
68. 803572 c.51C>A p.D17E missense 0.00001650●●●●●●
69. 797502 c.5A>G p.D2G missense 0.00001444●●●●●●
70. 808434 c.1228G>A p.G410S missense 0.00001387●●●●●●
71. 808429 c.1223C>T p.A408V missense 0.00001368●●●●●●
72. 808429 c.1223C>G p.A408G missense 0.00001368●●●●●●
73. 808431 c.1225G>A p.D409N missense 0.00001363●●●●●●
74. 808407 c.1201G>A p.E401K missense 0.00001330●●●●●●
75. 808590 c.1291C>T p.R431C missense 0.00001158●●●●●●
76. 806551 c.1114C>T p.P372S missense 0.00001086●●●●●●
77. 808599 c.1300C>T p.L434F missense 0.00001086●●●●●●
78. 806416 c.979G>C p.V327L missense 0.00001057●●●●●●
79. 806422 c.985A>C p.N329H missense 0.00001038●●●●●●
80. 806525 c.1088C>G p.S363C missense 0.00001032●●●●●●
81. 806510 c.1073C>G p.A358G missense 0.00001028●●●●●●
82. 806431 c.994G>A p.G332S missense 0.00001026●●●●●●
83. 806479 c.1042G>A p.A348T missense 0.00001026●●●●●●
84. 806518 c.1081G>A p.G361R missense 0.00001025●●●●●●
85. 806500 c.1063C>T p.P355S missense 0.00001021●●●●●●
86. 806506 c.1069C>A p.L357M missense 0.00001021●●●●●●
87. 806491 c.1054A>C p.I352L missense 0.00001018●●●●●●
88. 806434 c.997G>A p.A333T missense 0.00001018●●●●●●
89. 806438 c.1001T>A p.L334Q missense 0.00001013●●●●●●
90. 808613 c.1314G>T p.Q438H missense 0.00001006●●●●●●
91. 806449 c.1012G>A p.A338T missense 0.00001002●●●●●●
92. 808629 c.1330C>T p.R444C missense 0.00000940●●●●●●
93. 804566 c.470T>C p.V157A missense 0.00000891●●●●●●
94. 808726 c.1427T>A p.F476Y missense 0.00000878●●●●●●
95. 810823 c.1671C>G p.I557M missense 0.00000877●●●●●●
96. 804581 c.485T>G p.L162R missense 0.00000875●●●●●●
97. 804580 c.484C>G p.L162V missense 0.00000875●●●●●●
98. 804584 c.488C>T p.A163V missense 0.00000873●●●●●●
99. 804584 c.488C>G p.A163G missense 0.00000873●●●●●●
100. 804586 c.490T>G p.L164V missense 0.00000872●●●●●●
101. 804588 c.492G>C p.L164F missense 0.00000872●●●●●●
102. 804590 c.494C>T p.A165V missense 0.00000871●●●●●●
103. 804607 c.511G>A p.V171M missense 0.00000860●●●●●●
104. 808680 c.1381C>A p.L461M missense 0.00000858●●●●●●
105. 804614 c.518C>T p.A173V missense 0.00000854●●●●●●
106. 810797 c.1645C>T p.R549W missense 0.00000854●●●●●●
107. 804617 c.521G>C p.G174A missense 0.00000852●●●●●●
108. 804623 c.527C>T p.A176V missense 0.00000850●●●●●●
109. 810791 c.1639C>T p.H547Y missense 0.00000849●●●●●●
110. 804631 c.535G>A p.G179R missense 0.00000846●●●●●●
111. 804421 c.418A>G p.S140G missense 0.00000843●●●●●●
112. 804418 c.415G>A p.D139N missense 0.00000842●●●●●●
113. 804640 c.544C>T p.P182S missense 0.00000842●●●●●●
114. 810544 c.1465C>T p.P489S missense 0.00000839●●●●●●
115. 810770 c.1618C>T p.H540Y missense 0.00000838●●●●●●
116. 804322 c.319G>A p.A107T missense 0.00000838●●●●●●
117. 804329 c.326C>T p.T109I missense 0.00000837●●●●●●
118. 804188 c.268A>T p.M90L missense 0.00000837●●●●●●
119. 804341 c.338A>G p.Y113C missense 0.00000836●●●●●●
120. 804685 c.589C>G p.L197V missense 0.00000835●●●●●●
121. 804679 c.583G>T p.V195L missense 0.00000835●●●●●●
122. 804379 c.376A>G p.I126V missense 0.00000835●●●●●●
123. 810752 c.1600C>G p.L534V missense 0.00000833●●●●●●
124. 810755 c.1603A>G p.I535V missense 0.00000833●●●●●●
125. 810556 c.1477G>A p.E493K missense 0.00000833●●●●●●
126. 810740 c.1588G>T p.A530S missense 0.00000832●●●●●●
127. 810558 c.1479G>T p.E493D missense 0.00000832●●●●●●
128. 810565 c.1486C>T p.L496F missense 0.00000831●●●●●●
129. 810722 c.1570A>C p.M524L missense 0.00000831●●●●●●
130. 805178 c.883G>A p.A295T missense 0.00000831●●●●●●
131. 805175 c.880G>A p.A294T missense 0.00000830●●●●●●
132. 804142 c.222A>T p.E74D missense 0.00000830●●●●●●
133. 810572 c.1493T>C p.V498A missense 0.00000830●●●●●●
134. 805564 c.965C>T p.A322V missense 0.00000829●●●●●●
135. 805170 c.875C>G p.T292S missense 0.00000829●●●●●●
136. 804135 c.215A>G p.E72G missense 0.00000829●●●●●●
137. 810587 c.1508A>G p.N503S missense 0.00000829●●●●●●
138. 805554 c.955A>C p.I319L missense 0.00000829●●●●●●
139. 805495 c.896C>T p.A299V missense 0.00000829●●●●●●
140. 805557 c.958C>T p.P320S missense 0.00000829●●●●●●
141. 805510 c.911C>T p.S304L missense 0.00000829●●●●●●
142. 804132 c.212C>T p.T71M missense 0.00000829●●●●●●
143. 810583 c.1504A>G p.S502G missense 0.00000829●●●●●●
144. 804122 c.202A>T p.I68F missense 0.00000828●●●●●●
145. 810619 c.1540C>A p.Q514K missense 0.00000828●●●●●●
146. 810595 c.1516G>A p.V506I missense 0.00000828●●●●●●
147. 804124 c.204C>G p.I68M missense 0.00000828●●●●●●
148. 804120 c.200C>G p.P67R missense 0.00000828●●●●●●
149. 804036 c.116C>G p.A39G missense 0.00000828●●●●●●
150. 810602 c.1523A>G p.K508R missense 0.00000828●●●●●●
151. 805014 c.719C>T p.S240L missense 0.00000827●●●●●●
152. 799439 c.35C>T p.T12I missense 0.00000827●●●●●●
153. 804116 c.196C>T p.L66F missense 0.00000827●●●●●●
154. 799429 c.25G>A p.A9T missense 0.00000827●●●●●●
155. 799426 c.22A>G p.I8V missense 0.00000827●●●●●●
156. 805146 c.851A>C p.D284A missense 0.00000827●●●●●●
157. 805021 c.726C>G p.D242E missense 0.00000827●●●●●●
158. 799420 c.16C>G p.P6A missense 0.00000827●●●●●●
159. 804916 c.694G>C p.V232L missense 0.00000827●●●●●●
160. 804046 c.126T>G p.N42K missense 0.00000827●●●●●●
161. 805155 c.860C>T p.P287L missense 0.00000827●●●●●●
162. 804922 c.700G>A p.A234T missense 0.00000827●●●●●●
163. 804040 c.120C>G p.N40K missense 0.00000827●●●●●●
164. 799432 c.28G>C p.V10L missense 0.00000827●●●●●●
165. 805060 c.765C>G p.I255M missense 0.00000826●●●●●●
166. 804089 c.169C>T p.P57S missense 0.00000826●●●●●●
167. 804078 c.158G>A p.S53N missense 0.00000826●●●●●●
168. 805110 c.815G>A p.S272N missense 0.00000826●●●●●●
169. 805062 c.767A>T p.D256V missense 0.00000826●●●●●●
170. 804081 c.161C>T p.A54V missense 0.00000826●●●●●●
171. 805124 c.829C>T p.R277C missense 0.00000826●●●●●●
172. 804057 c.137A>G p.K46R missense 0.00000826●●●●●●
173. 805056 c.761G>A p.R254H missense 0.00000826●●●●●●
174. 804087 c.167T>A p.V56D missense 0.00000826●●●●●●
175. 804078 c.158G>T p.S53I missense 0.00000826●●●●●●
176. 805112 c.817C>T p.R273C missense 0.00000826●●●●●●
177. 803628 c.107C>T p.A36V missense 0.00000825●●●●●●
178. 804881 c.659A>G p.N220S missense 0.00000825●●●●●●
179. 804859 c.637A>G p.I213V missense 0.00000825●●●●●●
180. 803583 c.62C>G p.S21C missense 0.00000825●●●●●●
181. 803599 c.78C>G p.N26K missense 0.00000825●●●●●●
182. 807901 c.1152C>A p.F384L 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.