Disease: ARVC
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2896  |
Ig-19 |
15 | T/I | rs72647884  |
Taylor (2011)
Anderson (2013)
Bogolomovas (2016)
Fleming (2021)
| Genetic analysis of TTN in 38 ARVC families; complete segregation in 3-generation family (n = 7, 7 affected (total 11)); Strong destabilisation of domain in vitro; altered conformational dynamics of tandem in silico; echocardiography of knock-in mice show mild diastolic dysfunction / myocardial stiffness; MD characterisation of variants at the T2896 position | None | het | 24 |
0.6473 | 0.513 | 0.717 | -0.432 | 1.0 | None | 0.1635 | None | None | N | None | None | None | None | None | None | None | 2896 |
Ig-19 |
15 | T/I | rs72647884 |
gnomAD-4.0.0 | None | 0.00000159054 | None | 24 |
0.6473 | 0.513 | 0.717 | -0.432 | 1.0 | None | 0.1635 | None | None | N | 5.65227E-05 | 0 | 0 | None | 0 | 0 | 0 | 9275 |
Ig-78 |
71 | Y/C | rs72648996 |
gnomAD-2.1.1 | None | 0.0000643 | None | 154 |
0.9601 | 0.921 | 0.889 | -1.453 | 1.0 | None | 0.117 | None | None | N | 0 | 0 | 0 | None | 0 | 0 | 1.4055E-04 | 9275 |
Ig-78 |
71 | Y/C | rs72648996 |
gnomAD-3.1.2 | None | 0.000046 | None | 154 |
0.9601 | 0.921 | 0.889 | -1.453 | 1.0 | None | 0.117 | None | None | N | 2.41E-05 | 0 | 0 | None | 0 | 8.82E-05 | 0 | 9275 |
Ig-78 |
71 | Y/C | rs72648996 |
Taylor (2011)
| Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | het | 154 |
0.9601 | 0.921 | 0.889 | -1.453 | 1.0 | None | 0.117 | None | None | N | None | None | None | None | None | None | None | 9275 |
Ig-78 |
71 | Y/C | rs72648996 |
gnomAD-4.0.0 | None | 0.0000495845 | None | 154 |
0.9601 | 0.921 | 0.889 | -1.453 | 1.0 | None | 0.117 | None | None | N | 2.66959E-05 | 0 | 0 | None | 1.56211E-05 | 6.44267E-05 | 0 | 10092 |
Ig-86 |
15 | H/Y | rs72650011 |
gnomAD-2.1.1 | None | 0.004041311 | None | 24 |
0.4275 | 0.416 | 0.247 | 1.114 | 0.006 | None | 0.6965 | None | None | N | 2.8928E-04 | 5.08992E-04 | 0 | None | 2.71242E-03 | 8.83293E-03 | 6.01293E-03 | 10092 |
Ig-86 |
15 | H/Y | rs72650011 |
gnomAD-3.1.2 | None | 0.003608803 | None | 24 |
0.4275 | 0.416 | 0.247 | 1.114 | 0.006 | None | 0.6965 | None | None | N | 4.82928E-04 | 1.11286E-03 | 0 | None | 1.06543E-02 | 5.58659E-03 | 2.69263E-03 | 10092 |
Ig-86 |
15 | H/Y | rs72650011 |
1000 genomes | None | 0.00119808 | None | 24 |
0.4275 | 0.416 | 0.247 | 1.114 | 0.006 | None | 0.6965 | None | None | N | 8E-04 | 0 | 0 | 2E-03 | None | None | 3.1E-03 | 10092 |
Ig-86 |
15 | H/Y | rs72650011 |
Taylor (2011)
Costa (2021)
| Genetic analysis of TTN in 38 ARVC families, incomplete penetrance; subsequent identification of variant in desmoglein-2 (DSG2: c.152G>C) which co-segregates fully with condition in original affected individuals (n = 2) | None | het | 24 |
0.4275 | 0.416 | 0.247 | 1.114 | 0.006 | None | 0.6965 | None | None | N | None | None | None | None | None | None | None | 10092 |
Ig-86 |
15 | H/Y | rs72650011 |
gnomAD-4.0.0 | None | 0.003485247 | None | 24 |
0.4275 | 0.416 | 0.247 | 1.114 | 0.006 | None | 0.6965 | None | None | N | 4.26576E-04 | 7.66411E-04 | 4.45534E-05 | None | 9.03012E-03 | 3.84788E-03 | 2.29469E-03 | 19517 |
Fn3-29 |
39 | I/T | rs72646838 |
gnomAD-2.1.1 | None | 0.00000403 | None | 40 |
0.715 | 0.515 | 0.669 | -3.215 | 0.201 | None | 0.0853 | None | None | N | 0 | 0 | 0 | None | 0 | 0 | 8.92E-06 | 19517 |
Fn3-29 |
39 | I/T | rs72646838 |
gnomAD-3.1.2 | None | 0.0000329 | None | 40 |
0.715 | 0.515 | 0.669 | -3.215 | 0.201 | None | 0.0853 | None | None | N | 0 | 0 | 0 | None | 0 | 1.47E-05 | 0 | 19517 |
Fn3-29 |
39 | I/T | rs72646838 |
Taylor (2011)
| Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | het | 40 |
0.715 | 0.515 | 0.669 | -3.215 | 0.201 | None | 0.0853 | None | None | N | None | None | None | None | None | None | None | 19517 |
Fn3-29 |
39 | I/T | rs72646838 |
gnomAD-4.0.0 | None | 0.000016116 | None | 40 |
0.715 | 0.515 | 0.669 | -3.215 | 0.201 | None | 0.0853 | None | None | N | 0 | 1.66817E-05 | 0 | None | 0 | 1.52591E-05 | 0 | 21147 |
Fn3-41 |
84 | A/T | rs72646853 |
gnomAD-2.1.1 | None | 0.000539335 | None | 110 |
0.8376 | 0.662 | 0.777 | -1.8 | 1.0 | None | 0.0921 | None | None | N | 0 | 1.14528E-04 | 0 | None | 3.29989E-03 | 4.03E-05 | 2.61656E-04 | 21147 |
Fn3-41 |
84 | A/T | rs72646853 |
gnomAD-3.1.2 | None | 0.000315698 | None | 110 |
0.8376 | 0.662 | 0.777 | -1.8 | 1.0 | None | 0.0921 | None | None | N | 2.41E-05 | 0 | 0 | None | 0 | 3.53107E-04 | 4.54921E-03 | 21147 |
Fn3-41 |
84 | A/T | rs72646853 |
1000 genomes | None | 0.000798722 | None | 110 |
0.8376 | 0.662 | 0.777 | -1.8 | 1.0 | None | 0.0921 | None | None | N | 0 | 0 | 0 | 0 | None | None | 4.1E-03 | 21147 |
Fn3-41 |
84 | A/T | rs72646853 |
Taylor (2011)
| Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | comp het with M35859T | 110 |
0.8376 | 0.662 | 0.777 | -1.8 | 1.0 | None | 0.0921 | None | None | N | None | None | None | None | None | None | None | 21147 |
Fn3-41 |
84 | A/T | rs72646853 |
gnomAD-4.0.0 | None | 0.000420144 | None | 110 |
0.8376 | 0.662 | 0.777 | -1.8 | 1.0 | None | 0.0921 | None | None | N | 2.6688E-05 | 6.69546E-05 | 2.24669E-05 | None | 3.13224E-05 | 2.12097E-04 | 4.00934E-03 | 21877 |
Ig-125 |
12 | A/S | rs72646866 |
gnomAD-2.1.1 | None | 0.000101548 | None | 23 |
0.2568 | 0.259 | 0.547 | -0.574 | 1.0 | None | 0.3904 | None | None | I | 0 | 0 | 0 | None | 5.90667E-04 | 0 | 5.41E-05 | 21877 |
Ig-125 |
12 | A/S | rs72646866 |
gnomAD-3.1.2 | None | 0.0000263 | None | 23 |
0.2568 | 0.259 | 0.547 | -0.574 | 1.0 | None | 0.3904 | None | None | I | 0 | 0 | 0 | None | 0 | 1.47E-05 | 6.21375E-04 | 21877 |
Ig-125 |
12 | A/S | rs72646866 |
Taylor (2011)
| Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | het | 23 |
0.2568 | 0.259 | 0.547 | -0.574 | 1.0 | None | 0.3904 | None | None | I | None | None | None | None | None | None | None | 21877 |
Ig-125 |
12 | A/S | rs72646866 |
gnomAD-4.0.0 | None | 0.0000570925 | None | 23 |
0.2568 | 0.259 | 0.547 | -0.574 | 1.0 | None | 0.3904 | None | None | I | 0 | 0 | 0 | None | 0 | 1.78194E-05 | 6.60429E-04 | 33415 |
Fn3-131 |
24 | P/L | rs72648282 |
Taylor (2011)
| Genetic analysis of TTN in 38 ARVC families; unknown penetrance | None | het | 26 |
0.1585 | 0.521 | 0.823 | -0.651 | 0.999 | None | 0.4813 | None | None | N | None | None | None | None | None | None | None | 33415 |
Fn3-131 |
24 | P/L | rs72648282 |
gnomAD-4.0.0 | None | 0.00000347766 | None | 26 |
0.1585 | 0.521 | 0.823 | -0.651 | 0.999 | None | 0.4813 | None | None | N | 0 | 0 | 0 | None | 0 | 6.16717E-06 | 0 | 35859 |
None | None | M/T | rs72629793 |
gnomAD-2.1.1 | None | 0.001768246 | None | None |
0.5175 | 0.398 | None | None | None | None | None | None | None | None | 8.26E-05 | 2.54453E-04 | 5.12E-05 | None | 8.82295E-03 | 0 | 8.80762E-04 | 35859 |
None | None | M/T | rs72629793 |
gnomAD-3.1.2 | None | 0.000985286 | None | None |
0.5175 | 0.398 | None | None | None | None | None | None | None | None | 7.23E-05 | 0 | 3.8432E-04 | None | 0 | 8.37693E-04 | 1.11801E-02 | 35859 |
None | None | M/T | rs72629793 |
1000 genomes | None | 0.00219649 | None | None |
0.5175 | 0.398 | None | None | None | None | None | None | None | None | 0 | 0 | 0 | 1E-03 | None | None | 1.02E-02 | 35859 |
None | None | M/T | rs72629793 |
Taylor (2011)
| Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | comp het | None |
0.5175 | 0.398 | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | 35859 |
None | None | M/T | rs72629793 |
gnomAD-4.0.0 | None | 0.001276923 | None | None |
0.5175 | 0.398 | None | None | None | None | None | None | None | None | 1.19888E-04 | 1.83236E-04 | 2.00481E-04 | None | 4.68647E-05 | 5.76327E-04 | 1.00132E-02 |