Disease: MmD
| Position | Domain | Domain position | SNV | RS | Source | Comments | MAF | Zygosity | Structural Position | AlphaMissense (IC) | REVEL | Rhapsody | DUET | PolyPhen-2 | Condel | Q(SASA) |
Site annotation |
mCSM PPI |
Predicted PPI site |
AFR | AMR | EAS | EUR | FIN | NFE | SAS |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
16133  |
Fn3-4 |
79 | N/K | rs1060500470  |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro | None | comp het with R5308* | 112 |
0.9986 | 0.67 | 0.763 | None | 1.0 | None | 0.0884 | None | None | N | None | None | None | None | None | None | None | 16471 |
Fn3-7 |
22 | W/C | rs202094100 |
gnomAD-2.1.1 | None | 0.0003877 | None | 24 |
0.9989 | 0.74 | 0.859 | -1.763 | 1.0 | None | 0.1025 | None | None | N | 4.14E-05 | 1.4228E-04 | 0 | None | 0 | 4.82664E-04 | 6.51481E-04 | 16471 |
Fn3-7 |
22 | W/C | rs202094100 |
gnomAD-3.1.2 | None | 0.000375217 | None | 24 |
0.9989 | 0.74 | 0.859 | -1.763 | 1.0 | None | 0.1025 | None | None | N | 9.66E-05 | 1.31354E-04 | 0 | None | 3.77003E-04 | 6.91868E-04 | 0 | 16471 |
Fn3-7 |
22 | W/C | rs202094100 |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro (Tm 32 degrees lower than WT) | None | comp het with R17337* | 24 |
0.9989 | 0.74 | 0.859 | -1.763 | 1.0 | None | 0.1025 | None | None | N | None | None | None | None | None | None | None | 16471 |
Fn3-7 |
22 | W/C | rs202094100 |
gnomAD-4.0.0 | None | 0.000000685013 | None | 24 |
0.9989 | 0.74 | 0.859 | -1.763 | 1.0 | None | 0.1025 | None | None | N | 0 | 0 | 0 | None | 0 | 9.00163E-07 | 0 | 17051 |
Fn3-12 |
5 | C/R | rs781155992 |
gnomAD-2.1.1 | None | 0.00000403 | None | 5 |
0.9964 | 0.616 | 0.901 | -1.361 | 1.0 | None | 0.0828 | None | None | N | 0 | 0 | 0 | None | 3.27E-05 | 0 | 0 | 17051 |
Fn3-12 |
5 | C/R | rs781155992 |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro | None | comp het with Q32711Lfs*22 | 5 |
0.9964 | 0.616 | 0.901 | -1.361 | 1.0 | None | 0.0828 | None | None | N | None | None | None | None | None | None | None | 17051 |
Fn3-12 |
5 | C/R | rs781155992 |
gnomAD-4.0.0 | None | 0.00000159406 | None | 5 |
0.9964 | 0.616 | 0.901 | -1.361 | 1.0 | None | 0.0828 | None | None | N | 0 | 0 | 0 | None | 0 | 0 | 1.4339E-05 | 22232 |
Fn3-49 |
77 | V/E | rs2047754989 |
Chauveau (2013)
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro and cannot be re-folded; Also found in WES prioritisation in 23 families with congenital CM; comp het with N34020fs; recessive inheritance (n = 1, 1 affected (total 2)) | None | comp het with N34020Tfs*9 | 108 |
0.9947 | 0.945 | 0.877 | -3.064 | 0.997 | None | 0.0874 | None | None | N | None | None | None | None | None | None | None | 27849 |
Fn3-90 |
84 | G/V | None |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Protein unfolded; cannot be re-folded | None | comp het with R21201* | 118 |
0.9941 | 0.807 | 0.89 | None | 1.0 | None | 0.1387 | None | None | I | None | None | None | None | None | None | None | 31847 |
Fn3-120 |
41 | R/P | rs771179752 |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro; cannot be re-folded | None | comp het with R5430* | 43 |
0.999 | 0.749 | 0.873 | None | 1.0 | None | 0.0728 | None | None | N | None | None | None | None | None | None | None | 31847 |
Fn3-120 |
41 | R/P | rs771179752 |
gnomAD-4.0.0 | None | 0.000000684237 | None | 43 |
0.999 | 0.749 | 0.873 | None | 1.0 | None | 0.0728 | None | None | N | 0 | 0 | 0 | None | 0 | 8.99523E-07 | 0 | 34072 |
Kinase-1 |
260 | W/R | rs375159973 |
gnomAD-2.1.1 | None | 0.00000811 | None | None |
0.9898 | 0.829 | None | -2.479 | None | None | 0.1071 | None | None | N | 0 | 0 | 0 | None | 0 | 0 | 1.78E-05 | 34072 |
Kinase-1 |
260 | W/R | rs375159973 |
gnomAD-3.1.2 | None | 0.0000197 | None | None |
0.9898 | 0.829 | None | -2.479 | None | None | 0.1071 | None | None | N | 0 | 0 | 0 | None | 0 | 4.41E-05 | 0 | 34072 |
Kinase-1 |
260 | W/R | rs375159973 |
Chauveau (2013)
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with R7796*; Domain unfolded in vitro (Tm 17 degrees lower than WT); Also found by WES prioritisation in 23 families with congenital CM; comp het with E2989Efs*4; loss of interactions with protein binding partners (Y2H); recessive inheritance | None | comp het with E2989Efs*4 / comp het with R7796* | None |
0.9898 | 0.829 | None | -2.479 | None | None | 0.1071 | None | None | N | None | None | None | None | None | None | None | 34072 |
Kinase-1 |
260 | W/R | rs375159973 |
gnomAD-4.0.0 | None | 0.0000217264 | None | None |
0.9898 | 0.829 | None | -2.479 | None | None | 0.1071 | None | None | N | 0 | 1.66683E-05 | 2.22866E-05 | None | 0 | 2.62758E-05 | 1.09789E-05 |