Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26000 | 78223;78224;78225 | chr2:178568134;178568133;178568132 | chr2:179432861;179432860;179432859 |
| N2AB | 24359 | 73300;73301;73302 | chr2:178568134;178568133;178568132 | chr2:179432861;179432860;179432859 |
| N2A | 23432 | 70519;70520;70521 | chr2:178568134;178568133;178568132 | chr2:179432861;179432860;179432859 |
| N2B | 16935 | 51028;51029;51030 | chr2:178568134;178568133;178568132 | chr2:179432861;179432860;179432859 |
| Novex-1 | 17060 | 51403;51404;51405 | chr2:178568134;178568133;178568132 | chr2:179432861;179432860;179432859 |
| Novex-2 | 17127 | 51604;51605;51606 | chr2:178568134;178568133;178568132 | chr2:179432861;179432860;179432859 |
| 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 | rs794729506  |
0.202 | 0.782 | N | 0.61 | 0.181 | 0.3085936734 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/I | rs794729506 |
0.202 | 0.782 | N | 0.61 | 0.181 | 0.3085936734 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/I | rs794729506 |
0.202 | 0.782 | N | 0.61 | 0.181 | 0.3085936734 | gnomAD-4.0.0 | 8.67745E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23125E-05 | None | 0 | 1.64636E-04 | 9.3251E-06 | 0 | 1.60149E-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 | 0.0689 | likely_benign | 0.0659 | benign | -0.699 | Destabilizing | 0.003 | N | 0.161 | neutral | N | 0.510998256 | None | None | N |
| T/C | 0.3029 | likely_benign | 0.2661 | benign | -0.399 | Destabilizing | 0.973 | D | 0.626 | neutral | None | None | None | None | N |
| T/D | 0.3727 | ambiguous | 0.3453 | ambiguous | 0.25 | Stabilizing | 0.404 | N | 0.584 | neutral | None | None | None | None | N |
| T/E | 0.2795 | likely_benign | 0.2622 | benign | 0.262 | Stabilizing | 0.575 | D | 0.583 | neutral | None | None | None | None | N |
| T/F | 0.1702 | likely_benign | 0.1606 | benign | -0.8 | Destabilizing | 0.906 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/G | 0.1749 | likely_benign | 0.1654 | benign | -0.947 | Destabilizing | 0.404 | N | 0.615 | neutral | None | None | None | None | N |
| T/H | 0.2263 | likely_benign | 0.2053 | benign | -1.033 | Destabilizing | 0.947 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/I | 0.1135 | likely_benign | 0.1018 | benign | -0.131 | Destabilizing | 0.782 | D | 0.61 | neutral | N | 0.468631558 | None | None | N |
| T/K | 0.177 | likely_benign | 0.1673 | benign | -0.453 | Destabilizing | 0.338 | N | 0.587 | neutral | N | 0.460665436 | None | None | N |
| T/L | 0.0766 | likely_benign | 0.0736 | benign | -0.131 | Destabilizing | 0.404 | N | 0.566 | neutral | None | None | None | None | N |
| T/M | 0.0849 | likely_benign | 0.0806 | benign | -0.101 | Destabilizing | 0.991 | D | 0.633 | neutral | None | None | None | None | N |
| T/N | 0.122 | likely_benign | 0.1141 | benign | -0.437 | Destabilizing | 0.004 | N | 0.235 | neutral | None | None | None | None | N |
| T/P | 0.3163 | likely_benign | 0.3373 | benign | -0.288 | Destabilizing | 0.879 | D | 0.621 | neutral | N | 0.469739851 | None | None | N |
| T/Q | 0.2141 | likely_benign | 0.1952 | benign | -0.512 | Destabilizing | 0.826 | D | 0.657 | neutral | None | None | None | None | N |
| T/R | 0.1638 | likely_benign | 0.1548 | benign | -0.238 | Destabilizing | 0.782 | D | 0.61 | neutral | N | 0.515769357 | None | None | N |
| T/S | 0.0925 | likely_benign | 0.0861 | benign | -0.755 | Destabilizing | 0.174 | N | 0.512 | neutral | N | 0.421509615 | None | None | N |
| T/V | 0.0832 | likely_benign | 0.0745 | benign | -0.288 | Destabilizing | 0.404 | N | 0.511 | neutral | None | None | None | None | N |
| T/W | 0.5606 | ambiguous | 0.5306 | ambiguous | -0.779 | Destabilizing | 0.991 | D | 0.755 | deleterious | None | None | None | None | N |
| T/Y | 0.2262 | likely_benign | 0.2108 | benign | -0.516 | Destabilizing | 0.967 | D | 0.712 | prob.delet. | 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.