Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4840 | 14743;14744;14745 | chr2:178735928;178735927;178735926 | chr2:179600655;179600654;179600653 |
| N2AB | 4523 | 13792;13793;13794 | chr2:178735928;178735927;178735926 | chr2:179600655;179600654;179600653 |
| N2A | 3596 | 11011;11012;11013 | chr2:178735928;178735927;178735926 | chr2:179600655;179600654;179600653 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs199997460  |
-1.133 | None | N | 0.174 | 0.042 | None | gnomAD-2.1.1 | 7.85E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 7.99E-05 | 1.48204E-04 | 0 |
| N/H | rs199997460 |
-1.133 | None | N | 0.174 | 0.042 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 1.88324E-04 | 0 | 1.32298E-04 | 0 | 0 |
| N/H | rs199997460 |
-1.133 | None | N | 0.174 | 0.042 | None | gnomAD-4.0.0 | 1.25175E-04 | None | None | None | None | N | None | 0 | 1.66722E-05 | None | 0 | 0 | None | 1.24961E-04 | 0 | 1.59347E-04 | 0 | 8.00615E-05 |
| N/K | rs1162232624 |
None | None | N | 0.18 | 0.097 | 0.0551355673512 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 5.65291E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs779078589 |
-0.687 | None | N | 0.16 | 0.062 | 0.104622674875 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 8.49E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40331E-04 |
| N/T | rs779078589 |
-0.687 | None | N | 0.16 | 0.062 | 0.104622674875 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| N/T | rs779078589 |
-0.687 | None | N | 0.16 | 0.062 | 0.104622674875 | gnomAD-4.0.0 | 2.56203E-06 | None | None | None | None | N | None | 0 | 1.69509E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84398E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1378 | likely_benign | 0.1162 | benign | -0.661 | Destabilizing | 0.016 | N | 0.311 | neutral | None | None | None | None | N |
| N/C | 0.2155 | likely_benign | 0.1783 | benign | 0.196 | Stabilizing | 0.676 | D | 0.471 | neutral | None | None | None | None | N |
| N/D | 0.1127 | likely_benign | 0.0963 | benign | 0.273 | Stabilizing | None | N | 0.173 | neutral | N | 0.349772382 | None | None | N |
| N/E | 0.2469 | likely_benign | 0.2015 | benign | 0.282 | Stabilizing | 0.016 | N | 0.222 | neutral | None | None | None | None | N |
| N/F | 0.3572 | ambiguous | 0.2973 | benign | -0.861 | Destabilizing | 0.12 | N | 0.545 | neutral | None | None | None | None | N |
| N/G | 0.1795 | likely_benign | 0.1511 | benign | -0.887 | Destabilizing | 0.016 | N | 0.206 | neutral | None | None | None | None | N |
| N/H | 0.0795 | likely_benign | 0.0692 | benign | -0.806 | Destabilizing | None | N | 0.174 | neutral | N | 0.413704898 | None | None | N |
| N/I | 0.1576 | likely_benign | 0.1392 | benign | -0.136 | Destabilizing | 0.093 | N | 0.541 | neutral | N | 0.445894236 | None | None | N |
| N/K | 0.1481 | likely_benign | 0.1176 | benign | 0.036 | Stabilizing | None | N | 0.18 | neutral | N | 0.409000137 | None | None | N |
| N/L | 0.1663 | likely_benign | 0.1458 | benign | -0.136 | Destabilizing | 0.038 | N | 0.407 | neutral | None | None | None | None | N |
| N/M | 0.2861 | likely_benign | 0.249 | benign | 0.204 | Stabilizing | 0.356 | N | 0.449 | neutral | None | None | None | None | N |
| N/P | 0.4333 | ambiguous | 0.3847 | ambiguous | -0.283 | Destabilizing | 0.072 | N | 0.462 | neutral | None | None | None | None | N |
| N/Q | 0.197 | likely_benign | 0.1712 | benign | -0.413 | Destabilizing | 0.038 | N | 0.371 | neutral | None | None | None | None | N |
| N/R | 0.1599 | likely_benign | 0.1312 | benign | 0.031 | Stabilizing | 0.038 | N | 0.301 | neutral | None | None | None | None | N |
| N/S | 0.0738 | likely_benign | 0.0693 | benign | -0.348 | Destabilizing | None | N | 0.142 | neutral | N | 0.43276222 | None | None | N |
| N/T | 0.0986 | likely_benign | 0.0931 | benign | -0.164 | Destabilizing | None | N | 0.16 | neutral | N | 0.432406495 | None | None | N |
| N/V | 0.165 | likely_benign | 0.1425 | benign | -0.283 | Destabilizing | 0.038 | N | 0.445 | neutral | None | None | None | None | N |
| N/W | 0.6429 | likely_pathogenic | 0.5559 | ambiguous | -0.739 | Destabilizing | 0.864 | D | 0.479 | neutral | None | None | None | None | N |
| N/Y | 0.1186 | likely_benign | 0.1057 | benign | -0.512 | Destabilizing | 0.001 | N | 0.341 | neutral | N | 0.446527973 | None | None | N |
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.