SRI missense variants in ExAC

SRI gene summary
SRI variants in

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

* 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.