Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24825 | 74698;74699;74700 | chr2:178571659;178571658;178571657 | chr2:179436386;179436385;179436384 |
| N2AB | 23184 | 69775;69776;69777 | chr2:178571659;178571658;178571657 | chr2:179436386;179436385;179436384 |
| N2A | 22257 | 66994;66995;66996 | chr2:178571659;178571658;178571657 | chr2:179436386;179436385;179436384 |
| N2B | 15760 | 47503;47504;47505 | chr2:178571659;178571658;178571657 | chr2:179436386;179436385;179436384 |
| Novex-1 | 15885 | 47878;47879;47880 | chr2:178571659;178571658;178571657 | chr2:179436386;179436385;179436384 |
| Novex-2 | 15952 | 48079;48080;48081 | chr2:178571659;178571658;178571657 | chr2:179436386;179436385;179436384 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | rs753816472  |
0.283 | 0.89 | D | 0.738 | 0.358 | 0.782224416147 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.4833E-04 | None | 0 | None | 0 | 0 | 0 |
| S/I | rs753816472 |
0.283 | 0.89 | D | 0.738 | 0.358 | 0.782224416147 | gnomAD-4.0.0 | 2.73748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.57423E-05 | None | 0 | 0 | 0 | 0 | 1.65711E-05 |
| S/N | rs753816472 |
-1.189 | 0.822 | D | 0.569 | 0.269 | 0.292062946507 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/N | rs753816472 |
-1.189 | 0.822 | D | 0.569 | 0.269 | 0.292062946507 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs753816472 |
-1.189 | 0.822 | D | 0.569 | 0.269 | 0.292062946507 | gnomAD-4.0.0 | 8.67795E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18685E-05 | 0 | 0 |
| S/T | None | None | 0.822 | D | 0.567 | 0.238 | 0.275215494804 | gnomAD-4.0.0 | 2.73748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69879E-06 | 0 | 1.65711E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1546 | likely_benign | 0.1488 | benign | -0.289 | Destabilizing | 0.717 | D | 0.536 | neutral | None | None | None | None | N |
| S/C | 0.1056 | likely_benign | 0.1071 | benign | -0.827 | Destabilizing | 0.997 | D | 0.711 | prob.delet. | N | 0.50614676 | None | None | N |
| S/D | 0.8735 | likely_pathogenic | 0.8762 | pathogenic | -2.122 | Highly Destabilizing | 0.926 | D | 0.585 | neutral | None | None | None | None | N |
| S/E | 0.9123 | likely_pathogenic | 0.9136 | pathogenic | -2.05 | Highly Destabilizing | 0.86 | D | 0.591 | neutral | None | None | None | None | N |
| S/F | 0.2801 | likely_benign | 0.2595 | benign | -0.645 | Destabilizing | 0.043 | N | 0.529 | neutral | None | None | None | None | N |
| S/G | 0.1732 | likely_benign | 0.1568 | benign | -0.535 | Destabilizing | 0.822 | D | 0.556 | neutral | N | 0.486281305 | None | None | N |
| S/H | 0.51 | ambiguous | 0.5314 | ambiguous | -1.104 | Destabilizing | 0.994 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/I | 0.6125 | likely_pathogenic | 0.6178 | pathogenic | 0.264 | Stabilizing | 0.89 | D | 0.738 | prob.delet. | D | 0.527289209 | None | None | N |
| S/K | 0.972 | likely_pathogenic | 0.9721 | pathogenic | -0.578 | Destabilizing | 0.754 | D | 0.573 | neutral | None | None | None | None | N |
| S/L | 0.3322 | likely_benign | 0.3098 | benign | 0.264 | Stabilizing | 0.754 | D | 0.676 | prob.neutral | None | None | None | None | N |
| S/M | 0.3539 | ambiguous | 0.3434 | ambiguous | 0.358 | Stabilizing | 0.994 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/N | 0.3048 | likely_benign | 0.322 | benign | -1.183 | Destabilizing | 0.822 | D | 0.569 | neutral | D | 0.529762949 | None | None | N |
| S/P | 0.9972 | likely_pathogenic | 0.997 | pathogenic | 0.112 | Stabilizing | 0.993 | D | 0.772 | deleterious | None | None | None | None | N |
| S/Q | 0.8196 | likely_pathogenic | 0.8208 | pathogenic | -1.308 | Destabilizing | 0.956 | D | 0.647 | neutral | None | None | None | None | N |
| S/R | 0.9468 | likely_pathogenic | 0.9446 | pathogenic | -0.525 | Destabilizing | 0.032 | N | 0.447 | neutral | N | 0.49853621 | None | None | N |
| S/T | 0.1751 | likely_benign | 0.1697 | benign | -0.782 | Destabilizing | 0.822 | D | 0.567 | neutral | D | 0.527143931 | None | None | N |
| S/V | 0.5433 | ambiguous | 0.5381 | ambiguous | 0.112 | Stabilizing | 0.956 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/W | 0.579 | likely_pathogenic | 0.5605 | ambiguous | -0.912 | Destabilizing | 0.998 | D | 0.788 | deleterious | None | None | None | None | N |
| S/Y | 0.2555 | likely_benign | 0.2387 | benign | -0.427 | Destabilizing | 0.915 | D | 0.762 | 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.