Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2781 | 8566;8567;8568 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
| N2AB | 2781 | 8566;8567;8568 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
| N2A | 2781 | 8566;8567;8568 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
| N2B | 2735 | 8428;8429;8430 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
| Novex-1 | 2735 | 8428;8429;8430 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
| Novex-2 | 2735 | 8428;8429;8430 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
| Novex-3 | 2781 | 8566;8567;8568 | chr2:178770451;178770450;178770449 | chr2:179635178;179635177;179635176 |
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 | rs759448192  |
-1.159 | 1.0 | D | 0.693 | 0.609 | 0.79381265037 | gnomAD-2.1.1 | 4.78E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.59289E-04 | None | 0 | 8.83E-06 | 0 |
| L/F | rs759448192 |
-1.159 | 1.0 | D | 0.693 | 0.609 | 0.79381265037 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21375E-04 | 0 |
| L/F | rs759448192 |
-1.159 | 1.0 | D | 0.693 | 0.609 | 0.79381265037 | gnomAD-4.0.0 | 3.15985E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64366E-04 | 2.54231E-06 | 5.05017E-04 | 1.60041E-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 | 0.4447 | ambiguous | 0.5681 | pathogenic | -1.833 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| L/C | 0.7102 | likely_pathogenic | 0.8145 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| L/D | 0.9485 | likely_pathogenic | 0.9767 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| L/E | 0.8287 | likely_pathogenic | 0.9076 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| L/F | 0.3299 | likely_benign | 0.4401 | ambiguous | -0.907 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.631641292 | None | None | N |
| L/G | 0.8194 | likely_pathogenic | 0.908 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| L/H | 0.6192 | likely_pathogenic | 0.746 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.630547333 | None | None | N |
| L/I | 0.1458 | likely_benign | 0.1799 | benign | -0.511 | Destabilizing | 0.999 | D | 0.526 | neutral | D | 0.591184468 | None | None | N |
| L/K | 0.7364 | likely_pathogenic | 0.8385 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| L/M | 0.2049 | likely_benign | 0.2383 | benign | -0.647 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| L/N | 0.8061 | likely_pathogenic | 0.8969 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| L/P | 0.9104 | likely_pathogenic | 0.9597 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.546393105 | None | None | N |
| L/Q | 0.5675 | likely_pathogenic | 0.695 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| L/R | 0.6198 | likely_pathogenic | 0.7444 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.631641292 | None | None | N |
| L/S | 0.6415 | likely_pathogenic | 0.7892 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| L/T | 0.4813 | ambiguous | 0.6367 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| L/V | 0.1613 | likely_benign | 0.1913 | benign | -0.926 | Destabilizing | 0.999 | D | 0.565 | neutral | D | 0.546927343 | None | None | N |
| L/W | 0.5665 | likely_pathogenic | 0.6994 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| L/Y | 0.6922 | likely_pathogenic | 0.8054 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.