Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24744 | 74455;74456;74457 | chr2:178571902;178571901;178571900 | chr2:179436629;179436628;179436627 |
| N2AB | 23103 | 69532;69533;69534 | chr2:178571902;178571901;178571900 | chr2:179436629;179436628;179436627 |
| N2A | 22176 | 66751;66752;66753 | chr2:178571902;178571901;178571900 | chr2:179436629;179436628;179436627 |
| N2B | 15679 | 47260;47261;47262 | chr2:178571902;178571901;178571900 | chr2:179436629;179436628;179436627 |
| Novex-1 | 15804 | 47635;47636;47637 | chr2:178571902;178571901;178571900 | chr2:179436629;179436628;179436627 |
| Novex-2 | 15871 | 47836;47837;47838 | chr2:178571902;178571901;178571900 | chr2:179436629;179436628;179436627 |
| 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 | rs1708319578  |
None | 0.029 | N | 0.42 | 0.101 | 0.300110245524 | gnomAD-4.0.0 | 8.21241E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2972E-06 | 5.79777E-05 | 0 |
| T/P | rs1359036046 |
-0.349 | None | N | 0.171 | 0.222 | 0.117506650769 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| T/P | rs1359036046 |
-0.349 | None | N | 0.171 | 0.222 | 0.117506650769 | gnomAD-4.0.0 | 1.23976E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47761E-07 | 0 | 1.60179E-05 |
| T/S | rs1359036046 |
-0.297 | 0.012 | N | 0.175 | 0.128 | 0.15556083564 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1359036046 |
-0.297 | 0.012 | N | 0.175 | 0.128 | 0.15556083564 | gnomAD-4.0.0 | 6.8438E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65739E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0539 | likely_benign | 0.0569 | benign | -0.594 | Destabilizing | None | N | 0.095 | neutral | N | 0.45103838 | None | None | I |
| T/C | 0.2341 | likely_benign | 0.2421 | benign | -0.373 | Destabilizing | 0.356 | N | 0.461 | neutral | None | None | None | None | I |
| T/D | 0.3097 | likely_benign | 0.331 | benign | 0.052 | Stabilizing | 0.072 | N | 0.393 | neutral | None | None | None | None | I |
| T/E | 0.1854 | likely_benign | 0.2047 | benign | 0.018 | Stabilizing | 0.016 | N | 0.369 | neutral | None | None | None | None | I |
| T/F | 0.1482 | likely_benign | 0.1535 | benign | -0.76 | Destabilizing | None | N | 0.23 | neutral | None | None | None | None | I |
| T/G | 0.1782 | likely_benign | 0.1883 | benign | -0.809 | Destabilizing | 0.016 | N | 0.413 | neutral | None | None | None | None | I |
| T/H | 0.1313 | likely_benign | 0.1394 | benign | -1.103 | Destabilizing | 0.356 | N | 0.517 | neutral | None | None | None | None | I |
| T/I | 0.0635 | likely_benign | 0.0676 | benign | -0.125 | Destabilizing | 0.029 | N | 0.42 | neutral | N | 0.493367792 | None | None | I |
| T/K | 0.0642 | likely_benign | 0.0671 | benign | -0.664 | Destabilizing | None | N | 0.179 | neutral | None | None | None | None | I |
| T/L | 0.0505 | likely_benign | 0.0544 | benign | -0.125 | Destabilizing | 0.016 | N | 0.361 | neutral | None | None | None | None | I |
| T/M | 0.0647 | likely_benign | 0.0641 | benign | 0.056 | Stabilizing | 0.356 | N | 0.464 | neutral | None | None | None | None | I |
| T/N | 0.0926 | likely_benign | 0.1005 | benign | -0.445 | Destabilizing | 0.055 | N | 0.239 | neutral | D | 0.533712905 | None | None | I |
| T/P | 0.0569 | likely_benign | 0.0698 | benign | -0.25 | Destabilizing | None | N | 0.171 | neutral | N | 0.446632638 | None | None | I |
| T/Q | 0.1003 | likely_benign | 0.1052 | benign | -0.631 | Destabilizing | 0.038 | N | 0.435 | neutral | None | None | None | None | I |
| T/R | 0.0697 | likely_benign | 0.0715 | benign | -0.422 | Destabilizing | 0.016 | N | 0.38 | neutral | None | None | None | None | I |
| T/S | 0.0868 | likely_benign | 0.0928 | benign | -0.707 | Destabilizing | 0.012 | N | 0.175 | neutral | N | 0.493501078 | None | None | I |
| T/V | 0.0576 | likely_benign | 0.0617 | benign | -0.25 | Destabilizing | 0.016 | N | 0.209 | neutral | None | None | None | None | I |
| T/W | 0.4377 | ambiguous | 0.429 | ambiguous | -0.716 | Destabilizing | 0.864 | D | 0.497 | neutral | None | None | None | None | I |
| T/Y | 0.1701 | likely_benign | 0.1838 | benign | -0.486 | Destabilizing | 0.038 | N | 0.519 | neutral | None | None | None | None | I |
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.