TTN non-truncating variants in DCM cohorts

The table below lists the 70 rare (MAF<0.0001 in ExAC) non-truncating TTN variants identified in a cohort of 156 DCM patients. When this rare variant frequency of 0.44870 is compared with a background population rate of 0.39200, there is a statistically significant case excess of 0.05670 (p<0.0001), which suggests that approximately of these variants may be pathogenic.

Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (156)LMM class ExAC frequency
1. c.37432C>T p.P12478Smissense 2VUS0.000000
2. c.11450G>A p.G3817Dmissense 1VUS0.000017
3. c.20742T>A p.Phe6914Leumissense 1VUS0.000000
4. c.99434G>A p.R33145Qmissense 1VUS0.000033
5. c.18663A>C p.E6221Dmissense 1VUS0.000099
6. c.102428T>C p.M34143Tmissense 1VUS0.000074
7. c.93968C>T p.A31323Vmissense 1VUS0.000057
8. c.22386T>G p.Asp7462Glumissense 1VUS0.000000
9. c.28754A>C p.Glu9585Alamissense 1VUS0.000000
10. c.57415A>C p.Ile19139Leumissense 1VUS0.000000
11. c.54091A>G p.S18031Gmissense 1VUS0.000008
12. c.62290G>C p.Glu20764Glnmissense 1VUS0.000000
13. c.5132C>T p.S1711Fmissense 1VUS0.000016
14. c.64903C>T p.R21635Cmissense 1VUS0.000024
15. c.80608C>A p.Pro26870Thrmissense 1VUS0.000000
16. c.9674A>G p.N3225Smissense 1VUS0.000024
17. c.89947G>A p.V29983Mmissense 1VUS0.000099
18. c.96140C>T p.T32047Mmissense 1VUS0.000057
19. c.26765G>A p.Arg8922Glnmissense 1VUS0.000000
20. c.19015T>C p.Tyr6339Hismissense 1VUS0.000000
21. c.24344G>A p.S8115Nmissense 1VUS0.000083
22. c.39749_39766delTTGCTCCTGAAGAGGAAA inframe 1VUS0.000000
23. c.47887A>G p.M15963Vmissense 1VUS0.000033
24. c.3469G>A p.V1157Imissense 1VUS0.000041
25. c.68272G>A p.D22758Nmissense 1VUS0.000026
26. c.54685G>A p.V18229Mmissense 1VUS0.000091
27. c.5582G>A p.R1861Hmissense 1VUS0.000082
28. c.58705G>A p.D19569Nmissense 1VUS0.000017
29. c.12037G>A p.Ala4013Thrmissense 1VUS0.000000
30. c.78980G>A p.R26327Qmissense 1VUS0.000049
31. c.6941T>C p.I2314Tmissense 1VUS0.000008
32. c.74527A>G p.N24843Dmissense 1VUS0.000033
33. c.91478A>G p.Glu30493Glymissense 1VUS0.000000
34. c.94629A>G p.I31543Mmissense 1VUS0.000066
35. c.99814C>T p.L33272Fmissense 1VUS0.000009
36. c.105590G>A p.G35197Dmissense 1VUS0.000041
37. c.25046C>G p.A8349Gmissense 1VUS0.000008
38. c.15369_15371delGTT inframe 1VUS - favor pathogenic0.000000
39. c.1186G>A p.A396Tmissense 1VUS0.000008
40. c.62780G>A p.R20927Hmissense 1VUS0.000008
41. c.54167G>A p.R18056Qmissense 1VUS0.000026
42. c.77816A>C p.Asp25939Alamissense 1VUS0.000000
43. c.6029A>G p.Y2010Cmissense 1VUS0.000008
44. c.72985A>G p.Asn24329Aspmissense 1VUS0.000000
45. c.70181C>T p.T23394Mmissense 1VUS0.000024
46. c.11140A>G p.Ile3714Valmissense 1VUS0.000000
47. c.85195G>A p.E28399Kmissense 1VUS0.000016
48. c.89766G>C p.Lys29922Asnmissense 1VUS0.000000
49. c.96286G>A p.A32096Tmissense 1VUS0.000066
50. c.93472G>C p.Asp31158Hismissense 1VUS0.000000
51. c.20260A>G p.Lys6754Glumissense 1VUS0.000000
52. c.107285G>A p.R35762Qmissense 1VUS0.000033
53. c.43019T>C p.I14340Tmissense 1VUS0.000008
54. c.48395G>A p.R16132Hmissense 1VUS0.000066
55. c.58982G>A p.G19661Dmissense 1VUS0.000016
56. c.55139T>C p.I18380Tmissense 1VUS0.000050
57. c.72488G>A p.R24163Hmissense 1VUS0.000054
58. c.84523T>C p.Trp28175Argmissense 1VUS0.000000
59. c.98296G>T p.D32766Ymissense 1VUS0.000008
60. c.98243G>A p.R32748Hmissense 1VUS0.000066
61. c.102638A>G p.N34213Smissense 1VUS0.000008
62. c.105630A>C p.Gln35210Hismissense 1VUS0.000000
63. c.2605A>T p.T869Smissense 1VUS0.000041
64. c.50647C>T p.Pro16883Sermissense 1VUS0.000000
65. c.39163A>G p.Lys13055Glumissense 1VUS0.000000
66. c.63632T>C p.Val21211Alamissense 1VUS0.000000
67. c.58684A>G p.Ile19562Valmissense 1VUS0.000000
68. c.67147G>A p.G22383Rmissense 1VUS0.000058
69. c.6478A>G p.T2160Amissense 1VUS0.000016


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