Disease: Other
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2014  |
None | None | T/A | rs180672509  |
gnomAD-2.1.1 | None | 0.000145209 | None | None |
0.3229 | 0.153 | None | None | None | None | None | None | None | None | 0 | 0 | 2.05493E-03 | None | 0 | 0 | 0 | 2014 |
None | None | T/A | rs180672509 |
gnomAD-3.1.2 | None | 0.0000591 | None | None |
0.3229 | 0.153 | None | None | None | None | None | None | None | None | 0 | 0 | 1.7321E-03 | None | 0 | 0 | 0 | 2014 |
None | None | T/A | rs180672509 |
1000 genomes | None | 0.000599042 | None | None |
0.3229 | 0.153 | None | None | None | None | None | None | None | None | 0 | 0 | 3E-03 | 0 | None | None | 0 | 2014 |
None | None | T/A | rs180672509 |
Huang (2021)
| Genetic analysis of NMD patients; variant prioritisation; no validation | None | comp het with R33903H (in cis), c.1800+1G>A (in trans) | None |
0.3229 | 0.153 | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | 2014 |
None | None | T/A | rs180672509 |
gnomAD-4.0.0 | None | 0.0000303591 | None | None |
0.3229 | 0.153 | None | None | None | None | None | None | None | None | 0 | 0 | 1.06947E-03 | None | 0 | 0 | 0 | 9980 |
Ig-84 |
81 | A/T | rs189286381 |
gnomAD-2.1.1 | None | 0.000602544 | None | 169 |
0.5308 | 0.177 | 0.571 | -0.875 | 0.977 | None | 0.1314 | None | None | N | 0 | 0 | 8.05624E-03 | None | 3.002E-04 | 0 | 7.82E-06 | 9980 |
Ig-84 |
81 | A/T | rs189286381 |
gnomAD-3.1.2 | None | 0.000315449 | None | 169 |
0.5308 | 0.177 | 0.571 | -0.875 | 0.977 | None | 0.1314 | None | None | N | 0 | 6.55E-05 | 5.95925E-03 | None | 0 | 1.47E-05 | 4.13736E-04 | 9980 |
Ig-84 |
81 | A/T | rs189286381 |
1000 genomes | None | 0.000998403 | None | 169 |
0.5308 | 0.177 | 0.571 | -0.875 | 0.977 | None | 0.1314 | None | None | N | 0 | 0 | 5E-03 | 0 | None | None | 0 | 9980 |
Ig-84 |
81 | A/T | rs189286381 |
Sasaki (2020)
| Genetic analysis of 2 siblings with asymmetric facial and limb weakness; variant prioritisation; no validation | None | comp het with A19938T, R29293C | 169 |
0.5308 | 0.177 | 0.571 | -0.875 | 0.977 | None | 0.1314 | None | None | N | None | None | None | None | None | None | None | 9980 |
Ig-84 |
81 | A/T | rs189286381 |
gnomAD-4.0.0 | None | 0.000197969 | None | 169 |
0.5308 | 0.177 | 0.571 | -0.875 | 0.977 | None | 0.1314 | None | None | N | 0 | 1.67325E-05 | 5.83987E-03 | None | 0 | 1.18795E-05 | 2.20931E-04 | 19288 |
Fn3-28 |
5 | P/R | None |
Huang (2021)
| Genetic analysis of NMD patients; variant prioritisation; no validation | None | comp het with K4230Nfs*17 | 5 |
0.9984 | 0.667 | 0.941 | None | 1.0 | None | 0.1072 | None | None | N | None | None | None | None | None | None | None | 19938 |
Fn3-32 |
62 | A/T | rs755204306 |
gnomAD-2.1.1 | None | 0.00000807 | None | 93 |
0.1964 | 0.268 | 0.697 | -1.166 | 1.0 | None | 0.1553 | None | None | N | 0 | 0 | 0 | None | 3.27E-05 | 0 | 8.92E-06 | 19938 |
Fn3-32 |
62 | A/T | rs755204306 |
gnomAD-3.1.2 | None | 0.0000132 | None | 93 |
0.1964 | 0.268 | 0.697 | -1.166 | 1.0 | None | 0.1553 | None | None | N | 0 | 0 | 0 | None | 0 | 2.94E-05 | 0 | 19938 |
Fn3-32 |
62 | A/T | rs755204306 |
Sasaki (2020)
| Genetic analysis of 2 siblings with asymmetric facial and limb weakness; variant prioritisation; no validation | None | comp het with A9980T, R29293C | 93 |
0.1964 | 0.268 | 0.697 | -1.166 | 1.0 | None | 0.1553 | None | None | N | None | None | None | None | None | None | None | 19938 |
Fn3-32 |
62 | A/T | rs755204306 |
gnomAD-4.0.0 | None | 0.0000359616 | None | 93 |
0.1964 | 0.268 | 0.697 | -1.166 | 1.0 | None | 0.1553 | None | None | N | 1.33568E-05 | 0 | 3.58568E-04 | None | 0 | 2.54347E-05 | 8.78677E-05 | 19955 |
Fn3-32 |
79 | N/I | None |
Yu (2019)
| Genetic analysis of single patient with congenital titinopathy; comp het with L30639P; significant decrease in full-length titin protein in biopsy samples compared to WT | None | comp het with L30639P (in trans), c.44282-2A>G (in cis) | 112 |
0.9984 | 0.575 | 0.802 | None | 0.999 | None | 0.0971 | None | None | N | None | None | None | None | None | None | None | 24621 |
Fn3-67 |
6 | G/R | rs776476061 |
gnomAD-2.1.1 | None | 0.00000807 | None | 6 |
0.5588 | 0.336 | 0.784 | -1.114 | 1.0 | None | 0.1108 | None | None | N | 0 | 0 | 5.61E-05 | None | 3.27E-05 | 0 | 0 | 24621 |
Fn3-67 |
6 | G/R | rs776476061 |
Huang (2021)
| Genetic analysis of NMD patients; variant prioritisation; no validation | None | comp het with Y4418* | 6 |
0.5588 | 0.336 | 0.784 | -1.114 | 1.0 | None | 0.1108 | None | None | N | None | None | None | None | None | None | None | 24621 |
Fn3-67 |
6 | G/R | rs776476061 |
gnomAD-4.0.0 | None | 0.0000075294 | None | 6 |
0.5588 | 0.336 | 0.784 | -1.114 | 1.0 | None | 0.1108 | None | None | N | 0 | 0 | 2.52666E-05 | None | 0 | 0 | 1.04408E-04 | 29293 |
Fn3-101 |
57 | R/C | rs191482653 |
gnomAD-2.1.1 | None | 0.001926906 | None | 83 |
0.1887 | 0.464 | 0.797 | -0.197 | 1.0 | None | 0.8712 | None | None | I | 0 | 0 | 2.60379E-02 | None | 1.63388E-04 | 0 | 1.63983E-04 | 29293 |
Fn3-101 |
57 | R/C | rs191482653 |
gnomAD-3.1.2 | None | 0.000749389 | None | 83 |
0.1887 | 0.464 | 0.797 | -0.197 | 1.0 | None | 0.8712 | None | None | I | 2.41E-05 | 6.55E-05 | 2.04633E-02 | None | 9.43E-05 | 4.41E-05 | 2.06868E-04 | 29293 |
Fn3-101 |
57 | R/C | rs191482653 |
1000 genomes | None | 0.00319489 | None | 83 |
0.1887 | 0.464 | 0.797 | -0.197 | 1.0 | None | 0.8712 | None | None | I | 0 | 0 | 1.59E-02 | 0 | None | None | 0 | 29293 |
Fn3-101 |
57 | R/C | rs191482653 |
Sasaki (2020)
| Genetic analysis of 2 siblings with asymmetric facial and limb weakness; variant prioritisation; no validation | None | comp het with A9980T, A19938T | 83 |
0.1887 | 0.464 | 0.797 | -0.197 | 1.0 | None | 0.8712 | None | None | I | None | None | None | None | None | None | None | 29293 |
Fn3-101 |
57 | R/C | rs191482653 |
gnomAD-4.0.0 | None | 0.000671047 | None | 83 |
0.1887 | 0.464 | 0.797 | -0.197 | 1.0 | None | 0.8712 | None | None | I | 2.66546E-05 | 1.66644E-05 | 1.87703E-02 | None | 3.1249E-05 | 8.89942E-05 | 2.08589E-04 | 30639 |
Fn3-111 |
21 | L/P | None |
Yu (2019)
| Genetic analysis of single patient with congenital titinopathy; comp het with N19955I; significant decrease in full-length titin protein in biopsy samples compared to WT | None | comp het with N19955I (in trans), c.44282-2A>G (in cis) | 22 |
0.9945 | 0.756 | 0.932 | None | 1.0 | None | 0.0734 | None | None | N | None | None | None | None | None | None | None | 30639 |
Fn3-111 |
21 | L/P | None | gnomAD-4.0.0 | None | 0.00000120032 | None | 22 |
0.9945 | 0.756 | 0.932 | None | 1.0 | None | 0.0734 | None | None | N | 0 | 0 | 0 | None | 0 | 0 | 6.07533E-05 | 33903 |
Kinase-1 |
91 | R/H | rs72629782 |
gnomAD-2.1.1 | None | 0.000241827 | None | None |
0.442 | 0.447 | None | -2.243 | None | None | 0.0939 | None | None | N | 8.27E-05 | 0 | 1.99979E-03 | None | 3.27E-05 | 7.63839E-04 | 6.26E-05 | 33903 |
Kinase-1 |
91 | R/H | rs72629782 |
gnomAD-3.1.2 | None | 0.000190576 | None | None |
0.442 | 0.447 | None | -2.243 | None | None | 0.0939 | None | None | N | 2.41E-05 | 0 | 1.92382E-03 | None | 1.41429E-03 | 4.41E-05 | 0 | 33903 |
Kinase-1 |
91 | R/H | rs72629782 |
1000 genomes | None | 0.000599042 | None | None |
0.442 | 0.447 | None | -2.243 | None | None | 0.0939 | None | None | N | 0 | 0 | 3E-03 | 0 | None | None | 0 | 33903 |
Kinase-1 |
91 | R/H | rs72629782 |
Huang (2021)
| Genetic analysis of NMD patients; variant prioritisation; no validation | None | comp het with T2014A (in cis), c.1800+1G>A (in trans) | None |
0.442 | 0.447 | None | -2.243 | None | None | 0.0939 | None | None | N | None | None | None | None | None | None | None | 33903 |
Kinase-1 |
91 | R/H | rs72629782 |
gnomAD-4.0.0 | None | 0.0000925565 | None | None |
0.442 | 0.447 | None | -2.243 | None | None | 0.0939 | None | None | N | 3.99808E-05 | 0 | 1.09204E-03 | None | 7.82838E-04 | 3.64475E-05 | 1.09803E-05 |