PRKAG2 protein-altering variants in ExAC


The table below lists the PRKAG2 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. 151573698 c.8G>T p.S3I missense 0.00000833
2. 151573697 c.9C>G p.S3R missense 0.00000833
3. 151573680 c.26A>T p.K9M missense 0.00000831
4. 151573668 c.38A>G p.D13G missense 0.00000830
5. 151573666 c.40G>C p.V14L missense 0.00002489
6. 151573639 c.67A>C p.K23Q missense 0.00000831
7. 151573615 c.91C>G p.R31G missense 0.00000832
8. 151573603 c.103G>A p.V35M missense 0.00001666
9. 151573598 c.108C>G p.H36Q missense 0.00000833
10. 151483623 c.119T>A p.L40Q missense 0.00001052
11. 151483620 c.122G>A p.S41N missense 0.00001042
12. 151483611 c.131C>T p.A44V missense 0.00001022
13. 151483609 c.133A>G p.M45V missense 0.00001018
14. 151483608 c.134T>A p.M45K missense 0.00002037
15. 151483605 c.137C>A p.P46Q missense 0.00001013
16. 151483591 c.151G>C p.D51H missense 0.00001017
17. 151483576 c.166G>A p.G56R missense 0.00005281
18. 151483564 c.178T>C p.S60P missense 0.00001110
19. 151483561 c.181C>T p.R61X nonsense 0.00004552
20. 151478508 c.196C>T p.P66S missense 0.00001362
21. 151478502 c.202G>A p.G68S missense 0.00006602
22. 151478495 c.209G>A p.G70D missense 0.00001230
23. 151478480 c.224G>C p.G75A missense 0.00009808
24. 151478480 c.224G>T p.G75V missense 0.00001090
25. 151478479 c.225_239delGTTCTTCTCCAGAGG p.Phe76_Gly80del inframe 0.00001010
26. 151478459 c.245A>G p.Q82R missense 0.00000999
27. 151478451 c.253C>A p.P85T missense 0.00001911
28. 151478450 c.254C>A p.P85H missense 0.00000954
29. 151478409 c.295C>T p.P99S missense 0.00000842
30. 151478394 c.310A>G p.T104A missense 0.00000831
31. 151478391 c.313G>A p.V105M missense 0.00004150
32. 151478384 c.320C>T p.P107L missense 0.00000829
33. 151478379 c.325T>G p.S109A missense 0.00006622
34. 151478373 c.331C>G p.Q111E missense 0.00001654
35. 151478363 c.341C>T p.P114L missense 0.00003307
36. 151478363 c.341C>G p.P114R missense 0.00000827
37. 151478358 c.346C>T p.R116C missense 0.00003305
38. 151478357 c.347G>T p.R116L missense 0.00000826
39. 151478357 c.347G>A p.R116H missense 0.00000826
40. 151478354 c.350C>T p.S117F missense 0.00001652
41. 151478346 c.358C>T p.R120C missense 0.00000826
42. 151478345 c.359G>A p.R120H missense 0.00008261
43. 151478343 c.361A>G p.M121V missense 0.00000826
44. 151478343 c.361A>C p.M121L missense 0.00000826
45. 151478342 c.362T>A p.M121K missense 0.00000826
46. 151478339 c.365G>A p.S122N missense 0.00000826
47. 151478315 c.389C>A p.S130Y missense 0.00003303
48. 151478315 c.389C>T p.S130F missense 0.00000826
49. 151478309 c.395A>G p.K132R missense 0.00000826
50. 151478286 c.418C>T p.P140S missense 0.00004955
51. 151478279 c.425C>T p.T142I missense 0.00007434
52. 151478276 c.428C>T p.S143L missense 0.00000826
53. 151478273 c.431C>T p.P144L missense 0.00002479
54. 151478268 c.436G>C p.G146R missense 0.00000826
55. 151478250 c.454C>T p.R152C missense 0.00002481
56. 151478249 c.455G>A p.R152H missense 0.00003309
57. 151478247 c.457T>C p.S153P missense 0.00001655
58. 151372708 c.482C>T p.S161F missense 0.00001649
59. 151372705 c.485C>G p.S162C missense 0.00003298
60. 151372697 c.493A>G p.T165A missense 0.00000824
61. 151372690 c.500C>T p.T167I missense 0.00000824
62. 151372676 c.514C>G p.Q172E missense 0.00002472
63. 151372669 c.521C>T p.T174M missense 0.00004120
64. 151372651 c.539A>G p.Y180C missense 0.00002472
65. 151372649 c.541A>C p.K181Q missense 0.00001648
66. 151372636 c.554A>T p.E185V missense 0.00002472
67. 151372634 c.556C>T p.R186W missense 0.00002472
68. 151372633 c.557G>A p.R186Q missense 0.00001648
69. 151372628 c.562G>C p.E188Q missense 0.00001648
70. 151372628 c.562G>A p.E188K missense 0.00000824
71. 151372623 c.567T>G p.N189K missense 0.00000824
72. 151372619 c.571A>G p.I191V missense 0.00000824
73. 151372615 c.575A>G p.Y192C missense 0.00000824
74. 151372609 c.581C>T p.S194L missense 0.00003297
75. 151372606 c.584C>G p.S195C missense 0.00002473
76. 151372603 c.587C>T p.S196F missense 0.00000824
77. 151372600 c.590C>T p.P197L missense 0.00003298
78. 151372597 c.593C>T p.P198L missense 0.00000826
79. 151372597 c.593C>G p.P198R missense 0.00005784
80. 151372573 c.617C>T p.P206L missense 0.00001652
81. 151372558 c.632G>A p.S211N missense 0.00001655
82. 151372555 c.635C>T p.P212L missense 0.00001656
83. 151372549 c.641G>A p.R214K missense 0.00000830
84. 151372548 c.642G>C p.R214S missense 0.00000830
85. 151372519 c.671C>G p.A224G missense 0.00000838
86. 151372511 c.679A>G p.K227E missense 0.00001689
87. 151329218 c.691C>G p.L231V missense 0.00001279
88. 151329205 c.704T>G p.L235R missense 0.00002524
89. 151329191 c.718G>A p.A240T missense 0.00001248
90. 151329188 c.721G>A p.G241S missense 0.00001253
91. 151329182 c.727C>G p.L243V missense 0.00001257
92. 151292541 c.755-1G>A essential splice site 0.00000833
93. 151292537 c.758T>C p.V253A missense 0.00001661
94. 151292511 c.784A>G p.M262V missense 0.00000826
95. 151292509 c.786G>A p.M262I missense 0.00000826
96. 151292507 c.788G>A p.R263Q missense 0.00003303
97. 151292488 c.807G>C p.K269N missense 0.00000825
98. 151292436 c.859_863delTTACA p.Leu287SerfsTer2 frameshift 0.00000832
99. 151273538 c.865G>A p.V289I missense 0.00000891
100. 151273537 c.866T>C p.V289A missense 0.00002670
101. 151273507 c.896A>G p.N299S missense 0.00000862
102. 151273498 c.905G>T p.R302L missense 0.00000862
103. 151273490 c.913C>G p.P305A missense 0.00000864
104. 151273468 c.935A>G p.Q312R missense 0.00000892
105. 151273466 c.937A>C p.S313R missense 0.00000895
106. 151273465 c.938G>A p.S313N missense 0.00000897
107. 151272035 c.947G>T p.G316V missense 0.00000830
108. 151272020 c.962C>T p.T321I missense 0.00000829
109. 151271985 c.997T>G p.S333A missense 0.00000827
110. 151271979 c.1003A>G p.M335V missense 0.00000827
111. 151269761 c.1040A>G p.E347G missense 0.00000826
112. 151267261 c.1102G>T p.A368S missense 0.00000832
113. 151265923 c.1112T>A p.F371Y missense 0.00000825
114. 151265921 c.1114G>C p.D372H missense 0.00000825
115. 151265876 c.1159G>A p.V387I missense 0.00001648
116. 151262967 c.1238C>G p.S413C missense 0.00001647
117. 151262950 c.1255G>A p.A419T missense 0.00000824
118. 151262938 c.1267C>A p.Q423K missense 0.00003295
119. 151262910 c.1295C>T p.T432M missense 0.00000824
120. 151262895 c.1310C>G p.A437G missense 0.00000824
121. 151262890 c.1315A>G p.I439V missense 0.00002471
122. 151262881 c.1324G>A p.D442N missense 0.00000824
123. 151262856 c.1349A>G p.N450S missense 0.00001647
124. 151262854 c.1351A>G p.I451V missense 0.00001647
125. 151262852 c.1353A>G p.I451M missense 0.00000824
126. 151262847 c.1358T>C p.V453A missense 0.00000824
127. 151262841 c.1364G>A p.R455K missense 0.00000824
128. 151262839 c.1366C>G p.R456G missense 0.00000824
129. 151262815 c.1390G>A p.D464N missense 0.00004118
130. 151262437 c.1432G>A p.V478I missense 0.00003068
131. 151261273 c.1475T>A p.I492N missense 0.00003295
132. 151261259 c.1489G>T p.A497S missense 0.00000824
133. 151261240 c.1508A>G p.Q503R missense 0.00001647
134. 151261223 c.1525G>T p.V509L missense 0.00000824
135. 151261219 c.1529A>G p.K510R missense 0.00001647
136. 151261213 c.1535A>G p.N512S missense 0.00001647
137. 151261213 c.1535A>T p.N512I missense 0.00000824
138. 151261187 c.1561G>A p.V521M missense 0.00000824
139. 151261184 c.1564G>T p.D522Y missense 0.00000824
140. 151257697 c.1591C>T p.R531W missense 0.00000824
141. 151257675 c.1613C>A p.A538E missense 0.00000824
142. 151257664 c.1624G>T p.V542L missense 0.00000824
143. 151257663 c.1625T>C p.V542A missense 0.00000824
144. 151257640 c.1648A>C p.I550L missense 0.00003295
145. 151257628 c.1660C>G p.L554V missense 0.00000824
146. 151254318 c.1679G>C p.G560A missense 0.00000824
147. 151254316 c.1681G>A p.A561T missense 0.00000824
148. 151254316 c.1681G>C p.A561P missense 0.00000824
149. 151254310 c.1687C>T p.Q563X nonsense 0.00000824
150. 151254304 c.1693G>A p.E565K missense 0.00000824
151. 151254304 c.1693G>C p.E565Q missense 0.00000824
152. 151254294 c.1703C>T p.T568M missense 0.00009884
153. 151254292 c.1705G>A p.E569K 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.