Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27513 | 82762;82763;82764 | chr2:178563595;178563594;178563593 | chr2:179428322;179428321;179428320 |
| N2AB | 25872 | 77839;77840;77841 | chr2:178563595;178563594;178563593 | chr2:179428322;179428321;179428320 |
| N2A | 24945 | 75058;75059;75060 | chr2:178563595;178563594;178563593 | chr2:179428322;179428321;179428320 |
| N2B | 18448 | 55567;55568;55569 | chr2:178563595;178563594;178563593 | chr2:179428322;179428321;179428320 |
| Novex-1 | 18573 | 55942;55943;55944 | chr2:178563595;178563594;178563593 | chr2:179428322;179428321;179428320 |
| Novex-2 | 18640 | 56143;56144;56145 | chr2:178563595;178563594;178563593 | chr2:179428322;179428321;179428320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs957555800  |
-0.239 | 0.997 | N | 0.758 | 0.419 | 0.508398094826 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/R | rs957555800 |
-0.239 | 0.997 | N | 0.758 | 0.419 | 0.508398094826 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79897E-06 | 0 | 0 |
| G/S | None | None | 0.778 | N | 0.527 | 0.167 | 0.203808441222 | gnomAD-4.0.0 | 6.84215E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| G/V | rs1704505707 |
None | 0.997 | N | 0.745 | 0.453 | 0.600746198033 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1704505707 |
None | 0.997 | N | 0.745 | 0.453 | 0.600746198033 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 0 | 6.55394E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2136 | likely_benign | 0.1933 | benign | -0.382 | Destabilizing | 0.983 | D | 0.44 | neutral | N | 0.471332786 | None | None | N |
| G/C | 0.4737 | ambiguous | 0.4122 | ambiguous | -0.935 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.517963003 | None | None | N |
| G/D | 0.7447 | likely_pathogenic | 0.6975 | pathogenic | -0.784 | Destabilizing | 0.997 | D | 0.686 | prob.neutral | N | 0.520847103 | None | None | N |
| G/E | 0.7799 | likely_pathogenic | 0.7262 | pathogenic | -0.95 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/F | 0.8983 | likely_pathogenic | 0.8868 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/H | 0.8299 | likely_pathogenic | 0.8141 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/I | 0.6894 | likely_pathogenic | 0.6776 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/K | 0.9126 | likely_pathogenic | 0.8977 | pathogenic | -0.983 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/L | 0.7465 | likely_pathogenic | 0.7429 | pathogenic | -0.535 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/M | 0.7312 | likely_pathogenic | 0.7214 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/N | 0.5594 | ambiguous | 0.5402 | ambiguous | -0.605 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/P | 0.9908 | likely_pathogenic | 0.9914 | pathogenic | -0.452 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Q | 0.8183 | likely_pathogenic | 0.7962 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| G/R | 0.8353 | likely_pathogenic | 0.8194 | pathogenic | -0.481 | Destabilizing | 0.997 | D | 0.758 | deleterious | N | 0.478334225 | None | None | N |
| G/S | 0.1427 | likely_benign | 0.1404 | benign | -0.721 | Destabilizing | 0.778 | D | 0.527 | neutral | N | 0.482886148 | None | None | N |
| G/T | 0.3203 | likely_benign | 0.2921 | benign | -0.824 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/V | 0.5103 | ambiguous | 0.4907 | ambiguous | -0.452 | Destabilizing | 0.997 | D | 0.745 | deleterious | N | 0.486425301 | None | None | N |
| G/W | 0.8185 | likely_pathogenic | 0.7994 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/Y | 0.8118 | likely_pathogenic | 0.7893 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.774 | 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.