TNNT2 protein-altering variants in ExAC

TNNT2 gene summary
TNNT2 variants in DCM, HCM

The table below lists the TNNT2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 201342379 c.4T>C p.S2P missense 0.00000824●●●●●●
2. 201342373 c.10A>C p.I4L missense 0.00001647●●●●●●
3. 201342349 c.34G>A p.E12K missense 0.00000824●●●●●●
4. 201342343 c.40G>A p.E14K missense 0.00001647●●●●●●
5. 201341163 c.59C>T p.A20V missense 0.00000828●●●●●●
6. 201341155 c.67G>A p.E23K missense 0.00000824●●●●●●
7. 201337343 c.80C>G p.A27G missense 0.00001651●●●●●●
8. 201337343 c.80C>A p.A27E missense 0.00000825●●●●●●
9. 201337341 c.82G>A p.A28T missense 0.00003301●●●●●●
10. 201337340 c.83C>A p.A28E missense 0.00000825●●●●●●
11. 201337332 c.91G>A p.D31N missense 0.00000825●●●●●●
12. 201337322 c.101C>T p.A34V missense 0.00000824●●●●●●
13. 201337317 c.106G>C p.A36P missense 0.00004945●●●●●●
14. 201337308 c.115G>A p.E39K missense 0.00001648●●●●●●
15. 201336923 c.145G>C p.E49Q missense 0.00000824●●●●●●
16. 201336921 c.147_149delAGA p.Glu51del inframe 0.00000824●●●●●●
17. 201336918 c.150G>T p.E50D missense 0.00000824●●●●●●
18. 201336904 c.164C>A p.A55D missense 0.00000824●●●●●●
19. 201335991 c.178A>G p.M60V missense 0.00004946●●●●●●
20. 201335970 c.199C>A p.P67T missense 0.00000824●●●●●●
21. 201335969 c.200C>T p.P67L missense 0.00001648●●●●●●
22. 201335965 c.203+1G>A essential splice site 0.00000824●●●●●●
23. 201334796 c.206C>T p.S69L missense 0.00000868●●●●●●
24. 201334784 c.218A>G p.N73S missense 0.00001707●●●●●●
25. 201334778 c.224T>G p.V75G missense 0.00001702●●●●●●
26. 201334772 c.230C>T p.P77L missense 0.00003396●●●●●●
27. 201334767 c.235A>T p.I79F missense 0.00001695●●●●●●
28. 201334751 c.251dupG p.Val85SerfsTer4 frameshift 0.00001697●●●●●●
29. 201334745 c.257A>C p.D86A missense 0.00000850●●●●●●
30. 201334426 c.274C>T p.R92W missense 0.00000824●●●●●●
31. 201334417 c.283A>G p.M95V missense 0.00001648●●●●●●
32. 201334416 c.284T>C p.M95T missense 0.00000824●●●●●●
33. 201334389 c.311C>T p.A104V missense 0.00000824●●●●●●
34. 201334342 c.358C>G p.L120V missense 0.00000824●●●●●●
35. 201334327 c.373G>A p.D125N missense 0.00000824●●●●●●
36. 201334326 c.374A>G p.D125G missense 0.00000824●●●●●●
37. 201334318 c.381+1G>A essential splice site 0.00000824●●●●●●
38. 201333494 c.391C>T p.R131W missense 0.00000864●●●●●●
39. 201333484 c.401G>A p.R134Q missense 0.00000862●●●●●●
40. 201333479 c.406G>A p.E136K missense 0.00000861●●●●●●
41. 201333479 c.406G>C p.E136Q missense 0.00000861●●●●●●
42. 201333477 c.408G>T p.E136D missense 0.00000862●●●●●●
43. 201333467 c.418A>G p.I140V missense 0.00000862●●●●●●
44. 201333464 c.421delC frameshift 0.00003455●●●●●●
45. 201333460 c.425A>G p.N142S missense 0.00000865●●●●●●
46. 201333455 c.430C>T p.R144W missense 0.00003481●●●●●●
47. 201333454 c.431G>A p.R144Q missense 0.00001743●●●●●●
48. 201333436 c.449A>G p.N150S missense 0.00000897●●●●●●
49. 201333433 c.452G>A p.R151H missense 0.00000907●●●●●●
50. 201332527 c.467G>A p.R156K missense 0.00000824●●●●●●
51. 201332522 c.472C>T p.R158X nonsense 0.00000824●●●●●●
52. 201332519 c.475C>T p.R159X nonsense 0.00001647●●●●●●
53. 201332506 c.488A>G p.E163G missense 0.00000824●●●●●●
54. 201332471 c.523A>C p.K175Q missense 0.00000824●●●●●●
55. 201332466 c.528G>C p.K176N missense 0.00000824●●●●●●
56. 201332448 c.546G>A p.M182I missense 0.00000824●●●●●●
57. 201332447 c.547C>T p.H183Y missense 0.00000824●●●●●●
58. 201332441 c.553G>T p.G185W missense 0.00000824●●●●●●
59. 201331523 c.571-1G>A essential splice site 0.00001707●●●●●●
60. 201331147 c.583G>A p.E195K missense 0.00001648●●●●●●
61. 201331146 c.584_585delAG p.Glu195AlafsTer9 frameshift 0.00000824●●●●●●
62. 201331143 c.587G>A p.R196Q missense 0.00001648●●●●●●
63. 201331101 c.629A>T p.K210M missense 0.00000824●●●●●●
64. 201331090 c.640G>A p.E214K missense 0.00000824●●●●●●
65. 201331078 c.652G>T p.V218L missense 0.00003295●●●●●●
66. 201330487 c.700A>G p.K234E missense 0.00000824●●●●●●
67. 201330453 c.734C>T p.A245V missense 0.00000824●●●●●●
68. 201330442 c.745G>A p.D249N missense 0.00001647●●●●●●
69. 201330438 c.749T>C p.L250P missense 0.00000824●●●●●●
70. 201330438 c.749T>A p.L250Q missense 0.00001647●●●●●●
71. 201330406 c.780+1G>A essential splice site 0.00001647●●●●●●
72. 201328790 c.782T>C p.I261T missense 0.00001914●●●●●●
73. 201328778 c.794G>A p.R265Q missense 0.00001813●●●●●●
74. 201328767 c.805A>G p.N269D missense 0.00001732●●●●●●
75. 201328764 c.808G>T p.D270Y missense 0.00001717●●●●●●
76. 201328372 c.833G>A p.R278H missense 0.00002144●●●●●●
77. 201328370 c.835G>A p.G279R missense 0.00001072●●●●●●
78. 201328352 c.853G>A p.G285R missense 0.00006641●●●●●●
79. 201328349 c.856C>T p.R286C missense 0.00001119●●●●●●
80. 201328348 c.857G>A p.R286H missense 0.00007882●●●●●●
81. 201328348 c.857G>T p.R286L missense 0.00001126●●●●●●
82. 201328345 c.860G>A p.W287X nonsense 0.00001137●●●●●●
83. 201328342 c.863A>G p.K288R missense 0.00001146●●●●●●

* 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.