Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4017 | 12274;12275;12276 | chr2:178741184;178741183;178741182 | chr2:179605911;179605910;179605909 |
| N2AB | 3700 | 11323;11324;11325 | chr2:178741184;178741183;178741182 | chr2:179605911;179605910;179605909 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3654 | 11185;11186;11187 | chr2:178741184;178741183;178741182 | chr2:179605911;179605910;179605909 |
| Novex-1 | 3779 | 11560;11561;11562 | chr2:178741184;178741183;178741182 | chr2:179605911;179605910;179605909 |
| Novex-2 | 3846 | 11761;11762;11763 | chr2:178741184;178741183;178741182 | chr2:179605911;179605910;179605909 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | None | N | 0.229 | 0.118 | None | gnomAD-4.0.0 | 2.05325E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69831E-06 | 0 | 0 |
| L/S | rs1487515911  |
-0.092 | 0.055 | N | 0.533 | 0.136 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/S | rs1487515911 |
-0.092 | 0.055 | N | 0.533 | 0.136 | None | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | I | None | 5.65291E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs367635055 |
0.014 | 0.012 | N | 0.355 | 0.152 | None | gnomAD-2.1.1 | 6.8E-05 | None | None | None | None | I | None | 7.85449E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs367635055 |
0.014 | 0.012 | N | 0.355 | 0.152 | None | gnomAD-3.1.2 | 1.64264E-04 | None | None | None | None | I | None | 6.02991E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs367635055 |
0.014 | 0.012 | N | 0.355 | 0.152 | None | gnomAD-4.0.0 | 2.41737E-05 | None | None | None | None | I | None | 5.07099E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60123E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1781 | likely_benign | 0.1655 | benign | -0.405 | Destabilizing | 0.016 | N | 0.506 | neutral | None | None | None | None | I |
| L/C | 0.3132 | likely_benign | 0.2863 | benign | -0.652 | Destabilizing | 0.001 | N | 0.385 | neutral | None | None | None | None | I |
| L/D | 0.4804 | ambiguous | 0.4339 | ambiguous | -0.282 | Destabilizing | 0.628 | D | 0.544 | neutral | None | None | None | None | I |
| L/E | 0.2631 | likely_benign | 0.2117 | benign | -0.386 | Destabilizing | 0.356 | N | 0.541 | neutral | None | None | None | None | I |
| L/F | 0.0805 | likely_benign | 0.0842 | benign | -0.625 | Destabilizing | None | N | 0.229 | neutral | N | 0.451678915 | None | None | I |
| L/G | 0.3235 | likely_benign | 0.2921 | benign | -0.505 | Destabilizing | 0.072 | N | 0.527 | neutral | None | None | None | None | I |
| L/H | 0.132 | likely_benign | 0.1243 | benign | 0.102 | Stabilizing | 0.864 | D | 0.53 | neutral | None | None | None | None | I |
| L/I | 0.1044 | likely_benign | 0.1026 | benign | -0.268 | Destabilizing | None | N | 0.242 | neutral | None | None | None | None | I |
| L/K | 0.2509 | likely_benign | 0.2084 | benign | -0.263 | Destabilizing | 0.356 | N | 0.544 | neutral | None | None | None | None | I |
| L/M | 0.1204 | likely_benign | 0.1141 | benign | -0.478 | Destabilizing | 0.171 | N | 0.413 | neutral | N | 0.504898303 | None | None | I |
| L/N | 0.304 | likely_benign | 0.2825 | benign | -0.075 | Destabilizing | 0.628 | D | 0.538 | neutral | None | None | None | None | I |
| L/P | 0.5469 | ambiguous | 0.4961 | ambiguous | -0.285 | Destabilizing | 0.628 | D | 0.538 | neutral | None | None | None | None | I |
| L/Q | 0.1205 | likely_benign | 0.103 | benign | -0.289 | Destabilizing | 0.356 | N | 0.551 | neutral | None | None | None | None | I |
| L/R | 0.1544 | likely_benign | 0.1291 | benign | 0.232 | Stabilizing | 0.356 | N | 0.548 | neutral | None | None | None | None | I |
| L/S | 0.1705 | likely_benign | 0.1642 | benign | -0.441 | Destabilizing | 0.055 | N | 0.533 | neutral | N | 0.492105614 | None | None | I |
| L/T | 0.1886 | likely_benign | 0.1758 | benign | -0.445 | Destabilizing | 0.072 | N | 0.461 | neutral | None | None | None | None | I |
| L/V | 0.1067 | likely_benign | 0.1084 | benign | -0.285 | Destabilizing | 0.012 | N | 0.355 | neutral | N | 0.454753612 | None | None | I |
| L/W | 0.0437 | likely_benign | 0.0433 | benign | -0.65 | Destabilizing | None | N | 0.39 | neutral | N | 0.462032909 | None | None | I |
| L/Y | 0.1474 | likely_benign | 0.1511 | benign | -0.394 | Destabilizing | 0.038 | N | 0.461 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.