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

* 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.