Disease: HCM
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
740  |
None | None | R/L | rs28933405  |
Satoh (1999)
| Increases binding of TTN to ACTN1 (Y2H assay) | None | het | None |
0.141 | 0.319 | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | 740 |
None | None | R/L | rs28933405 |
gnomAD-4.0.0 | None | 0.000000684078 | None | None |
0.141 | 0.319 | None | None | None | None | None | None | None | None | 0 | 0 | 0 | None | 0 | 8.99298E-07 | 0 | 4116 |
None | None | S/Y | None |
Itoh-Satoh (2002)
Matsumoto (2006)
| Increases binding of TTN to FHL2 (Y2H assay) | None | het | None |
0.0933 | 0.237 | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | 4116 |
None | None | S/Y | None | gnomAD-4.0.0 | None | 0.00000615763 | None | None |
0.0933 | 0.237 | None | None | None | None | None | None | None | None | 0 | 0 | 0 | None | 0 | 8.09492E-06 | 0 | 9744 |
Ig-83 |
47 | R/H | rs760305440 |
gnomAD-2.1.1 | None | 0.0000178 | None | 115 |
0.7704 | 0.502 | 0.675 | -1.388 | 1.0 | None | 0.3344 | None | None | N | 4.14E-05 | 0 | 0 | None | 0 | 0 | 3.12E-05 | 9744 |
Ig-83 |
47 | R/H | rs760305440 |
gnomAD-3.1.2 | None | 0.0000526 | None | 115 |
0.7704 | 0.502 | 0.675 | -1.388 | 1.0 | None | 0.3344 | None | None | N | 4.83E-05 | 1.30993E-04 | 0 | None | 0 | 5.88E-05 | 0 | 9744 |
Ig-83 |
47 | R/H | rs760305440 |
Arimura (2009)
Lopes (2013)
| Increases binding of TTN to CARP (Co-IP assay); alters subcellular localisation of CARP (Myc-tag) | None | het | 115 |
0.7704 | 0.502 | 0.675 | -1.388 | 1.0 | None | 0.3344 | None | None | N | None | None | None | None | None | None | None | 9744 |
Ig-83 |
47 | R/H | rs760305440 |
gnomAD-4.0.0 | None | 0.0000526723 | None | 115 |
0.7704 | 0.502 | 0.675 | -1.388 | 1.0 | None | 0.3344 | None | None | N | 2.67044E-05 | 5.00067E-05 | 2.22787E-05 | None | 0 | 6.10253E-05 | 2.19573E-05 | 9848 |
None | None | R/Q | rs773444238 |
gnomAD-2.1.1 | None | 0.0000121 | None | None |
0.9093 | 0.85 | None | None | None | None | None | None | None | None | 0 | 0 | 1.11284E-04 | None | 3.27E-05 | 0 | 0 | 9848 |
None | None | R/Q | rs773444238 |
gnomAD-3.1.2 | None | 0.00000657 | None | None |
0.9093 | 0.85 | None | None | None | None | None | None | None | None | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 9848 |
None | None | R/Q | rs773444238 |
Arimura (2009)
| Increases binding of TTN to CARP (Co-IP assay); alters subcellular localisation of CARP (Myc-tag); co-segregation within family (n = 2, 2 affected (total 3)) | None | het | None |
0.9093 | 0.85 | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | 9848 |
None | None | R/Q | rs773444238 |
gnomAD-4.0.0 | None | 0.0000179725 | None | None |
0.9093 | 0.85 | None | None | None | None | None | None | None | None | 0 | 0 | 2.00597E-04 | None | 0 | 1.27147E-05 | 3.29533E-05 | 35643 |
Ig-167 |
37 | V/I | rs754459138 |
gnomAD-2.1.1 | None | 0.0000607 | None | 55 |
0.0561 | 0.031 | 0.202 | -0.006 | 0.001 | None | 0.4132 | None | None | N | 0 | 0 | 4.61302E-04 | None | 0 | 0 | 6.24E-05 | 35643 |
Ig-167 |
37 | V/I | rs754459138 |
gnomAD-3.1.2 | None | 0.0000394 | None | 55 |
0.0561 | 0.031 | 0.202 | -0.006 | 0.001 | None | 0.4132 | None | None | N | 0 | 0 | 3.85208E-04 | None | 0 | 5.88E-05 | 0 | 35643 |
Ig-167 |
37 | V/I | rs754459138 |
Luo (2022)
| Genetic analysis of Hui (CN) HCM family; variant prioritisation in individuals without established pathology; significant echocardiographical differences reported between carrier (n = 4) and non-carrier (n = 12) individuals | None | het | 55 |
0.0561 | 0.031 | 0.202 | -0.006 | 0.001 | None | 0.4132 | None | None | N | None | None | None | None | None | None | None | 35643 |
Ig-167 |
37 | V/I | rs754459138 |
gnomAD-4.0.0 | None | 0.0000985272 | None | 55 |
0.0561 | 0.031 | 0.202 | -0.006 | 0.001 | None | 0.4132 | None | None | N | 0 | 0 | 2.00526E-04 | None | 0 | 1.25439E-04 | 0 |