Disease: MFM
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
31712  |
Fn3-119 |
5 | C/R | rs869320740  |
gnomAD-2.1.1 | None | 0.00000411 | None | 5 |
0.8445 | 0.791 | 0.743 | -1.28 | 0.996 | None | 0.1205 | None | None | N | 0 | 0 | 0 | None | 0 | 0 | 9.1E-06 | 31712 |
Fn3-119 |
5 | C/R | rs869320740 |
Pfeffer (2012)
Ohlsson (2012)
Toro (2013)
Palmio (2013)
Pfeffer (2014)
Hedberg (2014)
Uruha (2015)
Yue (2015)
Palmio (2019)
Morais (2020)
Huang (2021)
| Found in multiple studies with full penetrance; WES prioritisation in single family; co-segregates in 3 families tested; WES/WGS prioritisation in 12 HMERF families, full penetrance; Genetic analysis of genes in 127 undiagnosed patients, likely MFM; Genetic analysis of genes in 12 HMERF families; WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF; Genetic analysis of CN patient (familial) | None | het | 5 |
0.8445 | 0.791 | 0.743 | -1.28 | 0.996 | None | 0.1205 | None | None | N | None | None | None | None | None | None | None | 31712 |
Fn3-119 |
5 | C/R | rs869320740 |
gnomAD-4.0.0 | None | 0.00000343489 | None | 5 |
0.8445 | 0.791 | 0.743 | -1.28 | 0.996 | None | 0.1205 | None | None | N | 0 | 0 | 0 | None | 1.88501E-05 | 2.7073E-06 | 0 | 31712 |
Fn3-119 |
5 | C/Y | None |
Uruha (2015)
| Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | het | 5 |
0.7862 | 0.723 | 0.674 | -1.682 | 0.996 | None | 0.1205 | None | None | N | None | None | None | None | None | None | None | 31729 |
Fn3-119 |
22 | W/L | rs786205367 |
Izumi (2013)
| Genetic analysis of single JP family; co-segregates within family (n = 5, 5 affected (total 10)); linkage analysis; not found in ethnic controls | None | het | 24 |
0.9589 | 0.903 | 0.851 | -2.41 | 1.0 | None | 0.1098 | None | None | N | None | None | None | None | None | None | None | 31791 |
Fn3-119 |
84 | G/D | rs869320744 |
Toro (2013)
Uruha (2015)
| WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | het | 118 |
0.984 | 0.944 | 0.875 | -1.821 | 1.0 | None | 0.147 | None | None | N | None | None | None | None | None | None | None | 31791 |
Fn3-119 |
84 | G/R | rs1696856005 |
Uruha (2015)
| Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | het | 118 |
0.9924 | 0.954 | 0.916 | -1.008 | 1.0 | None | 0.147 | None | None | N | None | None | None | None | None | None | None | 31791 |
Fn3-119 |
84 | G/V | None |
Uruha (2015)
| Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | het | 118 |
0.9787 | 0.916 | 0.903 | -0.713 | 1.0 | None | 0.147 | None | None | N | None | None | None | None | None | None | None |