Disease: MmD-HD
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 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 |