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