Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27429 | 82510;82511;82512 | chr2:178563847;178563846;178563845 | chr2:179428574;179428573;179428572 |
| N2AB | 25788 | 77587;77588;77589 | chr2:178563847;178563846;178563845 | chr2:179428574;179428573;179428572 |
| N2A | 24861 | 74806;74807;74808 | chr2:178563847;178563846;178563845 | chr2:179428574;179428573;179428572 |
| N2B | 18364 | 55315;55316;55317 | chr2:178563847;178563846;178563845 | chr2:179428574;179428573;179428572 |
| Novex-1 | 18489 | 55690;55691;55692 | chr2:178563847;178563846;178563845 | chr2:179428574;179428573;179428572 |
| Novex-2 | 18556 | 55891;55892;55893 | chr2:178563847;178563846;178563845 | chr2:179428574;179428573;179428572 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs1387188018  |
-1.249 | 0.001 | N | 0.162 | 0.181 | 0.233150807113 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Y/H | rs1387188018 |
-1.249 | 0.001 | N | 0.162 | 0.181 | 0.233150807113 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/H | rs1387188018 |
-1.249 | 0.001 | N | 0.162 | 0.181 | 0.233150807113 | gnomAD-4.0.0 | 1.61129E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20385E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4275 | ambiguous | 0.3992 | ambiguous | -2.167 | Highly Destabilizing | 0.001 | N | 0.476 | neutral | None | None | None | None | N |
| Y/C | 0.0752 | likely_benign | 0.0748 | benign | -1.369 | Destabilizing | 0.928 | D | 0.609 | neutral | N | 0.467036835 | None | None | N |
| Y/D | 0.5643 | likely_pathogenic | 0.5442 | ambiguous | -1.964 | Destabilizing | 0.324 | N | 0.581 | neutral | D | 0.527486111 | None | None | N |
| Y/E | 0.7123 | likely_pathogenic | 0.6931 | pathogenic | -1.789 | Destabilizing | 0.241 | N | 0.572 | neutral | None | None | None | None | N |
| Y/F | 0.0829 | likely_benign | 0.0847 | benign | -0.66 | Destabilizing | 0.324 | N | 0.453 | neutral | N | 0.456857127 | None | None | N |
| Y/G | 0.4414 | ambiguous | 0.4183 | ambiguous | -2.536 | Highly Destabilizing | 0.116 | N | 0.551 | neutral | None | None | None | None | N |
| Y/H | 0.1484 | likely_benign | 0.1403 | benign | -1.058 | Destabilizing | 0.001 | N | 0.162 | neutral | N | 0.471412146 | None | None | N |
| Y/I | 0.3576 | ambiguous | 0.3409 | ambiguous | -0.99 | Destabilizing | 0.388 | N | 0.563 | neutral | None | None | None | None | N |
| Y/K | 0.6274 | likely_pathogenic | 0.613 | pathogenic | -1.77 | Destabilizing | 0.388 | N | 0.556 | neutral | None | None | None | None | N |
| Y/L | 0.3172 | likely_benign | 0.3019 | benign | -0.99 | Destabilizing | 0.241 | N | 0.517 | neutral | None | None | None | None | N |
| Y/M | 0.4879 | ambiguous | 0.4681 | ambiguous | -0.836 | Destabilizing | 0.932 | D | 0.569 | neutral | None | None | None | None | N |
| Y/N | 0.3055 | likely_benign | 0.2872 | benign | -2.525 | Highly Destabilizing | 0.193 | N | 0.577 | neutral | N | 0.515876316 | None | None | N |
| Y/P | 0.9567 | likely_pathogenic | 0.9574 | pathogenic | -1.387 | Destabilizing | 0.818 | D | 0.641 | neutral | None | None | None | None | N |
| Y/Q | 0.4596 | ambiguous | 0.435 | ambiguous | -2.244 | Highly Destabilizing | 0.69 | D | 0.577 | neutral | None | None | None | None | N |
| Y/R | 0.4598 | ambiguous | 0.446 | ambiguous | -1.623 | Destabilizing | 0.69 | D | 0.612 | neutral | None | None | None | None | N |
| Y/S | 0.271 | likely_benign | 0.2513 | benign | -2.92 | Highly Destabilizing | 0.018 | N | 0.487 | neutral | N | 0.484845593 | None | None | N |
| Y/T | 0.3976 | ambiguous | 0.3859 | ambiguous | -2.631 | Highly Destabilizing | 0.241 | N | 0.571 | neutral | None | None | None | None | N |
| Y/V | 0.2761 | likely_benign | 0.2729 | benign | -1.387 | Destabilizing | 0.241 | N | 0.51 | neutral | None | None | None | None | N |
| Y/W | 0.3617 | ambiguous | 0.3696 | ambiguous | -0.144 | Destabilizing | 0.981 | D | 0.525 | 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.