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. 87839440 c.255T>G p.D85E missense 0.00001648●●●●●●
27. 87846499 c.143A>G p.Q48R missense 0.00001648●●●●●●
28. 87838696 c.469G>T p.D157Y 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. 87837883 c.512-3C>T splice site 0.00000837●●●●●●
33. 87837827 c.565G>C p.D189H missense 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. 87837845 c.547G>A p.V183I missense 0.00000832●●●●●●
38. 87837868 c.524G>A p.R175K 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. 87848256 c.53A>C p.Y18S missense 0.00000829●●●●●●
42. 87848255 c.54T>C splice site 0.00000829●●●●●●
43. 87848244 c.65C>T p.P22L missense 0.00000827●●●●●●
44. 87848208 c.101C>G p.P34R missense 0.00000826●●●●●●
45. 87848227 c.82C>A p.P28T missense 0.00000826●●●●●●
46. 87835821 c.571-2A>G essential splice site 0.00000826●●●●●●
47. 87835813 c.577C>T p.Q193X nonsense 0.00000826●●●●●●
48. 87848174 c.135G>A splice site 0.00000826●●●●●●
49. 87835810 c.580T>C p.C194R missense 0.00000825●●●●●●
50. 87838770 c.398-3T>C splice site 0.00000825●●●●●●
51. 87835811 c.579A>C p.Q193H missense 0.00000825●●●●●●
52. 87838647 c.511+7T>G splice site 0.00000825●●●●●●
53. 87838656 c.509C>T p.T170I missense 0.00000825●●●●●●
54. 87835806 c.584T>C p.V195A missense 0.00000825●●●●●●
55. 87838760 c.405G>T p.R135S missense 0.00000825●●●●●●
56. 87838668 c.497T>C p.L166P missense 0.00000824●●●●●●
57. 87838696 c.469G>A p.D157N missense 0.00000824●●●●●●
58. 87838744 c.421G>A p.V141M missense 0.00000824●●●●●●
59. 87846498 c.144G>C p.Q48H missense 0.00000824●●●●●●
60. 87838692 c.473A>T p.D158V missense 0.00000824●●●●●●
61. 87839367 c.328A>G p.I110V missense 0.00000824●●●●●●
62. 87838693 c.472G>A p.D158N missense 0.00000824●●●●●●
63. 87839374 c.321A>C p.Q107H missense 0.00000824●●●●●●
64. 87838697 c.468C>A p.F156L missense 0.00000824●●●●●●
65. 87846445 c.197G>A p.G66E missense 0.00000824●●●●●●
66. 87838677 c.488G>A p.C163Y missense 0.00000824●●●●●●
67. 87838747 c.418G>C p.A140P missense 0.00000824●●●●●●
68. 87838686 c.479T>A p.I160N missense 0.00000824●●●●●●
69. 87846508 c.136-2A>C essential splice site 0.00000824●●●●●●
70. 87838693 c.472G>T p.D158Y missense 0.00000824●●●●●●
71. 87839432 c.263G>A p.G88D missense 0.00000824●●●●●●
72. 87839387 c.308A>G p.N103S missense 0.00000824●●●●●●
73. 87839367 c.328A>T p.I110F missense 0.00000824●●●●●●
74. 87838693 c.472G>C p.D158H missense 0.00000824●●●●●●
75. 87838718 c.447C>A p.S149R missense 0.00000824●●●●●●
76. 87839297 c.397+1G>T essential splice site 0.00000824●●●●●●
77. 87838713 c.452A>G p.N151S missense 0.00000824●●●●●●
78. 87846475 c.167G>A p.R56K missense 0.00000824●●●●●●
79. 87838671 c.494A>G p.K165R missense 0.00000824●●●●●●
80. 87839441 c.254A>G p.D85G missense 0.00000824●●●●●●
81. 87838690 c.475T>G p.Y159D missense 0.00000824●●●●●●
82. 87839324 c.371A>G p.E124G missense 0.00000824●●●●●●
83. 87839427 c.268A>G p.M90V missense 0.00000824●●●●●●
84. 87839368 c.327T>G p.F109L missense 0.00000824●●●●●●
85. 87838719 c.446G>A p.S149N missense 0.00000824●●●●●●
86. 87839373 c.322C>G p.H108D missense 0.00000824●●●●●●
87. 87846493 c.149A>T p.D50V missense 0.00000824●●●●●●
88. 87838690 c.475T>C p.Y159H missense 0.00000824●●●●●●
89. 87839358 c.337G>C p.D113H 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.