PRKAG2 protein-altering variants in ExAC

PRKAG2 gene summary
PRKAG2 variants in DCM, HCM

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

* 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.