Disease: CNM
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
7321  |
None | None | E/K | rs2078691261  |
gnomAD-3.1.2 | None | 0.0000131 | None | None |
0.4389 | 0.245 | None | None | None | None | None | None | None | None | 0 | 0 | 0 | None | 0 | 2.94E-05 | 0 | 7321 |
None | None | E/K | rs2078691261 |
Ceyhan-Birsoy (2013)
| WES/WGS prioritisation; increased titin degradation/truncation in patient muscles; comp het with K16972fs (N2A) | None | comp het with K16972fs | None |
0.4389 | 0.245 | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | 7321 |
None | None | E/K | rs2078691261 |
gnomAD-4.0.0 | None | 0.00000619962 | None | None |
0.4389 | 0.245 | None | None | None | None | None | None | None | None | 0 | 0 | 0 | None | 0 | 8.47844E-06 | 0 | 18237 |
Fn3-20 |
72 | L/P | rs201412693 |
gnomAD-2.1.1 | None | 0.000642972 | None | 98 |
0.4574 | 0.09 | 0.341 | -0.639 | 0.013 | None | 0.596 | None | None | N | 2.06937E-04 | 6.22242E-04 | 0 | None | 0 | 1.19942E-04 | 1.12554E-03 | 18237 |
Fn3-20 |
72 | L/P | rs201412693 |
gnomAD-3.1.2 | None | 0.000612076 | None | 98 |
0.4574 | 0.09 | 0.341 | -0.639 | 0.013 | None | 0.596 | None | None | N | 2.41464E-04 | 4.59619E-04 | 0 | None | 9.42E-05 | 1.08926E-03 | 0 | 18237 |
Fn3-20 |
72 | L/P | rs201412693 |
1000 genomes | None | 0.000798722 | None | 98 |
0.4574 | 0.09 | 0.341 | -0.639 | 0.013 | None | 0.596 | None | None | N | 0 | 0 | 0 | 4E-03 | None | None | 0 | 18237 |
Fn3-20 |
72 | L/P | rs201412693 |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro (Tm 17 degrees lower than WT) | None | comp het with D32441Ffs*1, W35453* | 98 |
0.4574 | 0.09 | 0.341 | -0.639 | 0.013 | None | 0.596 | None | None | N | None | None | None | None | None | None | None | 18237 |
Fn3-20 |
72 | L/P | rs201412693 |
gnomAD-4.0.0 | None | 0.000912083 | None | 98 |
0.4574 | 0.09 | 0.341 | -0.639 | 0.013 | None | 0.596 | None | None | N | 1.73449E-04 | 4.83704E-04 | 0 | None | 1.09358E-04 | 1.1746E-03 | 1.09868E-05 | 25480 |
Fn3-73 |
76 | R/P | None |
Rees (2021)
| Genetic analysis of TTN in 30 CM patients; comp het with truncating; Protein unfolded | None | comp het with R14679* | 107 |
0.9992 | 0.504 | 0.817 | None | 1.0 | None | 0.1084 | None | None | N | None | None | None | None | None | None | None | 25480 |
Fn3-73 |
76 | R/P | None | gnomAD-4.0.0 | None | 0.00000273837 | None | 107 |
0.9992 | 0.504 | 0.817 | None | 1.0 | None | 0.1084 | None | None | N | 0 | 0 | 0 | None | 0 | 3.59882E-06 | 0 |