SRI variants in ExAC

SRI gene summary
SRI variants in

The table below lists the SRI 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. 87846511 c.136-5A>G splice site 0.01787775●●●●●●
2. 87839361 c.334T>C p.F112L missense 0.00059305●●●●●●
3. 87837866 c.526C>T p.R176W missense 0.00048245●●●●●●
4. 87838735 c.430A>G p.I144V missense 0.00027188●●●●●●
5. 87848248 c.61G>C p.A21P missense 0.00007453●●●●●●
6. 87840205 c.241A>G p.M81V missense 0.00006695●●●●●●
7. 87839394 c.301G>A p.V101I missense 0.00006590●●●●●●
8. 87846436 c.205+1G>A essential splice site 0.00004944●●●●●●
9. 87848184 c.125T>C p.V42A missense 0.00003303●●●●●●
10. 87838774 c.398-7_398-5delCTT splice site 0.00003301●●●●●●
11. 87846436 c.205+1G>C essential splice site 0.00003296●●●●●●
12. 87846437 c.205C>T p.P69S missense 0.00003296●●●●●●
13. 87839313 c.382G>A p.A128T missense 0.00003295●●●●●●
14. 87840219 c.227G>A p.R76Q missense 0.00002506●●●●●●
15. 87837872 c.520C>T p.R174X nonsense 0.00002498●●●●●●
16. 87838646 c.511+8C>G splice site 0.00002476●●●●●●
17. 87838675 c.490G>A p.V164I missense 0.00002472●●●●●●
18. 87840189 c.249+8T>G splice site 0.00001688●●●●●●
19. 87840220 c.226C>T p.R76W missense 0.00001671●●●●●●
20. 87837871 c.521G>A p.R174Q missense 0.00001666●●●●●●
21. 87837842 c.550G>T p.V184L missense 0.00001664●●●●●●
22. 87837862 c.530A>G p.D177G missense 0.00001662●●●●●●
23. 87848241 c.68G>A p.G23E missense 0.00001654●●●●●●
24. 87848171 c.135+3T>C splice site 0.00001653●●●●●●
25. 87839438 c.257T>C p.M86T missense 0.00001648●●●●●●
26. 87838696 c.469G>T p.D157Y missense 0.00001648●●●●●●
27. 87846499 c.143A>G p.Q48R missense 0.00001648●●●●●●
28. 87839440 c.255T>G p.D85E missense 0.00001648●●●●●●
29. 87846454 c.188T>C p.I63T missense 0.00001648●●●●●●
30. 87837819 c.570+3A>G splice site 0.00000845●●●●●●
31. 87840198 c.248A>G p.D83G missense 0.00000839●●●●●●
32. 87837827 c.565G>C p.D189H missense 0.00000837●●●●●●
33. 87837883 c.512-3C>T splice site 0.00000837●●●●●●
34. 87837829 c.563A>G p.Y188C missense 0.00000836●●●●●●
35. 87840232 c.214C>A p.L72M missense 0.00000835●●●●●●
36. 87840217 c.229C>T p.L77F missense 0.00000835●●●●●●
37. 87837868 c.524G>A p.R175K missense 0.00000832●●●●●●
38. 87837845 c.547G>A p.V183I missense 0.00000832●●●●●●
39. 87848260 c.52-3C>T splice site 0.00000830●●●●●●
40. 87848259 c.52-2A>T essential splice site 0.00000830●●●●●●
41. 87848255 c.54T>C splice site 0.00000829●●●●●●
42. 87848256 c.53A>C p.Y18S missense 0.00000829●●●●●●
43. 87848244 c.65C>T p.P22L missense 0.00000827●●●●●●
44. 87848227 c.82C>A p.P28T missense 0.00000826●●●●●●
45. 87835821 c.571-2A>G essential splice site 0.00000826●●●●●●
46. 87835813 c.577C>T p.Q193X nonsense 0.00000826●●●●●●
47. 87848174 c.135G>A splice site 0.00000826●●●●●●
48. 87848208 c.101C>G p.P34R missense 0.00000826●●●●●●
49. 87838770 c.398-3T>C splice site 0.00000825●●●●●●
50. 87838656 c.509C>T p.T170I missense 0.00000825●●●●●●
51. 87835811 c.579A>C p.Q193H missense 0.00000825●●●●●●
52. 87838647 c.511+7T>G splice site 0.00000825●●●●●●
53. 87835806 c.584T>C p.V195A missense 0.00000825●●●●●●
54. 87838760 c.405G>T p.R135S missense 0.00000825●●●●●●
55. 87835810 c.580T>C p.C194R missense 0.00000825●●●●●●
56. 87839358 c.337G>C p.D113H missense 0.00000824●●●●●●
57. 87838686 c.479T>A p.I160N missense 0.00000824●●●●●●
58. 87838693 c.472G>T p.D158Y missense 0.00000824●●●●●●
59. 87846498 c.144G>C p.Q48H missense 0.00000824●●●●●●
60. 87838693 c.472G>C p.D158H missense 0.00000824●●●●●●
61. 87838744 c.421G>A p.V141M missense 0.00000824●●●●●●
62. 87838713 c.452A>G p.N151S missense 0.00000824●●●●●●
63. 87838690 c.475T>G p.Y159D missense 0.00000824●●●●●●
64. 87846445 c.197G>A p.G66E missense 0.00000824●●●●●●
65. 87839367 c.328A>G p.I110V missense 0.00000824●●●●●●
66. 87839374 c.321A>C p.Q107H missense 0.00000824●●●●●●
67. 87846508 c.136-2A>C essential splice site 0.00000824●●●●●●
68. 87839432 c.263G>A p.G88D missense 0.00000824●●●●●●
69. 87838747 c.418G>C p.A140P missense 0.00000824●●●●●●
70. 87838668 c.497T>C p.L166P missense 0.00000824●●●●●●
71. 87838690 c.475T>C p.Y159H missense 0.00000824●●●●●●
72. 87839297 c.397+1G>T essential splice site 0.00000824●●●●●●
73. 87846475 c.167G>A p.R56K missense 0.00000824●●●●●●
74. 87838671 c.494A>G p.K165R missense 0.00000824●●●●●●
75. 87839367 c.328A>T p.I110F missense 0.00000824●●●●●●
76. 87839387 c.308A>G p.N103S missense 0.00000824●●●●●●
77. 87838718 c.447C>A p.S149R missense 0.00000824●●●●●●
78. 87838696 c.469G>A p.D157N missense 0.00000824●●●●●●
79. 87839441 c.254A>G p.D85G missense 0.00000824●●●●●●
80. 87839324 c.371A>G p.E124G missense 0.00000824●●●●●●
81. 87838692 c.473A>T p.D158V missense 0.00000824●●●●●●
82. 87846493 c.149A>T p.D50V missense 0.00000824●●●●●●
83. 87839373 c.322C>G p.H108D missense 0.00000824●●●●●●
84. 87839427 c.268A>G p.M90V missense 0.00000824●●●●●●
85. 87839368 c.327T>G p.F109L missense 0.00000824●●●●●●
86. 87838693 c.472G>A p.D158N missense 0.00000824●●●●●●
87. 87838697 c.468C>A p.F156L missense 0.00000824●●●●●●
88. 87838719 c.446G>A p.S149N missense 0.00000824●●●●●●
89. 87838677 c.488G>A p.C163Y 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.