Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2686 | 8281;8282;8283 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
| N2AB | 2686 | 8281;8282;8283 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
| N2A | 2686 | 8281;8282;8283 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
| N2B | 2640 | 8143;8144;8145 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
| Novex-1 | 2640 | 8143;8144;8145 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
| Novex-2 | 2640 | 8143;8144;8145 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
| Novex-3 | 2686 | 8281;8282;8283 | chr2:178771271;178771270;178771269 | chr2:179635998;179635997;179635996 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 0.029 | N | 0.542 | 0.312 | 0.606340826685 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs756935554  |
-1.585 | None | N | 0.163 | 0.064 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs756935554 |
-1.585 | None | N | 0.163 | 0.064 | None | gnomAD-4.0.0 | 9.57725E-06 | None | None | None | None | N | None | 0 | 4.47307E-05 | None | 0 | 0 | None | 0 | 0 | 1.07916E-05 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1179 | likely_benign | 0.1186 | benign | -1.511 | Destabilizing | None | N | 0.195 | neutral | None | None | None | None | N |
| I/C | 0.6362 | likely_pathogenic | 0.649 | pathogenic | -0.946 | Destabilizing | 0.356 | N | 0.515 | neutral | None | None | None | None | N |
| I/D | 0.533 | ambiguous | 0.5292 | ambiguous | -0.655 | Destabilizing | 0.072 | N | 0.598 | neutral | None | None | None | None | N |
| I/E | 0.3326 | likely_benign | 0.3223 | benign | -0.671 | Destabilizing | 0.038 | N | 0.538 | neutral | None | None | None | None | N |
| I/F | 0.1771 | likely_benign | 0.1807 | benign | -1.115 | Destabilizing | 0.171 | N | 0.517 | neutral | N | 0.508860585 | None | None | N |
| I/G | 0.438 | ambiguous | 0.4619 | ambiguous | -1.809 | Destabilizing | 0.038 | N | 0.541 | neutral | None | None | None | None | N |
| I/H | 0.4436 | ambiguous | 0.4386 | ambiguous | -0.951 | Destabilizing | 0.676 | D | 0.555 | neutral | None | None | None | None | N |
| I/K | 0.2634 | likely_benign | 0.2446 | benign | -0.894 | Destabilizing | 0.038 | N | 0.533 | neutral | None | None | None | None | N |
| I/L | 0.1255 | likely_benign | 0.1317 | benign | -0.783 | Destabilizing | 0.002 | N | 0.273 | neutral | N | 0.472778103 | None | None | N |
| I/M | 0.0752 | likely_benign | 0.0769 | benign | -0.603 | Destabilizing | 0.005 | N | 0.291 | neutral | N | 0.474107187 | None | None | N |
| I/N | 0.2295 | likely_benign | 0.2378 | benign | -0.689 | Destabilizing | 0.295 | N | 0.601 | neutral | N | 0.504577533 | None | None | N |
| I/P | 0.7676 | likely_pathogenic | 0.708 | pathogenic | -0.993 | Destabilizing | 0.214 | N | 0.595 | neutral | None | None | None | None | N |
| I/Q | 0.2938 | likely_benign | 0.2879 | benign | -0.886 | Destabilizing | 0.007 | N | 0.393 | neutral | None | None | None | None | N |
| I/R | 0.1946 | likely_benign | 0.1804 | benign | -0.299 | Destabilizing | 0.214 | N | 0.596 | neutral | None | None | None | None | N |
| I/S | 0.147 | likely_benign | 0.1503 | benign | -1.348 | Destabilizing | 0.029 | N | 0.519 | neutral | N | 0.421645036 | None | None | N |
| I/T | 0.073 | likely_benign | 0.0717 | benign | -1.245 | Destabilizing | 0.029 | N | 0.542 | neutral | N | 0.458843244 | None | None | N |
| I/V | 0.0745 | likely_benign | 0.0776 | benign | -0.993 | Destabilizing | None | N | 0.163 | neutral | N | 0.429910723 | None | None | N |
| I/W | 0.7755 | likely_pathogenic | 0.763 | pathogenic | -1.13 | Destabilizing | 0.864 | D | 0.592 | neutral | None | None | None | None | N |
| I/Y | 0.5281 | ambiguous | 0.5239 | ambiguous | -0.907 | Destabilizing | 0.356 | N | 0.532 | neutral | None | None | 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.