Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15807 | 47644;47645;47646 | chr2:178617932;178617931;178617930 | chr2:179482659;179482658;179482657 |
| N2AB | 14166 | 42721;42722;42723 | chr2:178617932;178617931;178617930 | chr2:179482659;179482658;179482657 |
| N2A | 13239 | 39940;39941;39942 | chr2:178617932;178617931;178617930 | chr2:179482659;179482658;179482657 |
| N2B | 6742 | 20449;20450;20451 | chr2:178617932;178617931;178617930 | chr2:179482659;179482658;179482657 |
| Novex-1 | 6867 | 20824;20825;20826 | chr2:178617932;178617931;178617930 | chr2:179482659;179482658;179482657 |
| Novex-2 | 6934 | 21025;21026;21027 | chr2:178617932;178617931;178617930 | chr2:179482659;179482658;179482657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs770409489  |
None | 0.473 | N | 0.424 | 0.251 | 0.356072328145 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs770409489 |
None | 0.473 | N | 0.424 | 0.251 | 0.356072328145 | gnomAD-4.0.0 | 6.58562E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47284E-05 | 0 | 0 |
| T/N | None | -0.16 | 0.642 | N | 0.288 | 0.218 | 0.317667799068 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/N | None | -0.16 | 0.642 | N | 0.288 | 0.218 | 0.317667799068 | gnomAD-4.0.0 | 3.18664E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72525E-06 | 0 | 0 |
| T/S | rs770409489 |
-0.349 | 0.029 | N | 0.159 | 0.07 | 0.19670166235 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11769E-04 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs770409489 |
-0.349 | 0.029 | N | 0.159 | 0.07 | 0.19670166235 | gnomAD-4.0.0 | 7.9666E-06 | None | None | None | None | N | None | 0 | 6.8631E-05 | None | 0 | 5.55617E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0733 | likely_benign | 0.0749 | benign | -0.628 | Destabilizing | 0.002 | N | 0.151 | neutral | N | 0.419921084 | None | None | N |
| T/C | 0.453 | ambiguous | 0.3881 | ambiguous | -0.37 | Destabilizing | 0.981 | D | 0.495 | neutral | None | None | None | None | N |
| T/D | 0.3656 | ambiguous | 0.3685 | ambiguous | -0.007 | Destabilizing | 0.704 | D | 0.423 | neutral | None | None | None | None | N |
| T/E | 0.2482 | likely_benign | 0.2492 | benign | -0.056 | Destabilizing | 0.495 | N | 0.423 | neutral | None | None | None | None | N |
| T/F | 0.2717 | likely_benign | 0.2423 | benign | -0.885 | Destabilizing | 0.944 | D | 0.539 | neutral | None | None | None | None | N |
| T/G | 0.2521 | likely_benign | 0.2466 | benign | -0.821 | Destabilizing | 0.329 | N | 0.391 | neutral | None | None | None | None | N |
| T/H | 0.2596 | likely_benign | 0.2449 | benign | -1.097 | Destabilizing | 0.981 | D | 0.504 | neutral | None | None | None | None | N |
| T/I | 0.1411 | likely_benign | 0.1293 | benign | -0.222 | Destabilizing | 0.473 | N | 0.424 | neutral | N | 0.474797003 | None | None | N |
| T/K | 0.2054 | likely_benign | 0.1979 | benign | -0.622 | Destabilizing | 0.704 | D | 0.426 | neutral | None | None | None | None | N |
| T/L | 0.094 | likely_benign | 0.0852 | benign | -0.222 | Destabilizing | 0.329 | N | 0.411 | neutral | None | None | None | None | N |
| T/M | 0.1012 | likely_benign | 0.1021 | benign | 0.062 | Stabilizing | 0.944 | D | 0.502 | neutral | None | None | None | None | N |
| T/N | 0.1225 | likely_benign | 0.1182 | benign | -0.411 | Destabilizing | 0.642 | D | 0.288 | neutral | N | 0.466998494 | None | None | N |
| T/P | 0.094 | likely_benign | 0.094 | benign | -0.326 | Destabilizing | 0.001 | N | 0.238 | neutral | N | 0.417808687 | None | None | N |
| T/Q | 0.2038 | likely_benign | 0.2008 | benign | -0.651 | Destabilizing | 0.828 | D | 0.543 | neutral | None | None | None | None | N |
| T/R | 0.1735 | likely_benign | 0.1681 | benign | -0.312 | Destabilizing | 0.828 | D | 0.511 | neutral | None | None | None | None | N |
| T/S | 0.118 | likely_benign | 0.1125 | benign | -0.678 | Destabilizing | 0.029 | N | 0.159 | neutral | N | 0.429124596 | None | None | N |
| T/V | 0.1081 | likely_benign | 0.1009 | benign | -0.326 | Destabilizing | 0.013 | N | 0.154 | neutral | None | None | None | None | N |
| T/W | 0.6512 | likely_pathogenic | 0.6338 | pathogenic | -0.818 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | N |
| T/Y | 0.2994 | likely_benign | 0.2755 | benign | -0.587 | Destabilizing | 0.981 | D | 0.52 | 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.