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