Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25453 | 76582;76583;76584 | chr2:178569775;178569774;178569773 | chr2:179434502;179434501;179434500 |
| N2AB | 23812 | 71659;71660;71661 | chr2:178569775;178569774;178569773 | chr2:179434502;179434501;179434500 |
| N2A | 22885 | 68878;68879;68880 | chr2:178569775;178569774;178569773 | chr2:179434502;179434501;179434500 |
| N2B | 16388 | 49387;49388;49389 | chr2:178569775;178569774;178569773 | chr2:179434502;179434501;179434500 |
| Novex-1 | 16513 | 49762;49763;49764 | chr2:178569775;178569774;178569773 | chr2:179434502;179434501;179434500 |
| Novex-2 | 16580 | 49963;49964;49965 | chr2:178569775;178569774;178569773 | chr2:179434502;179434501;179434500 |
| 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 | rs1272812744  |
None | 0.473 | N | 0.323 | 0.127 | 0.379193981924 | gnomAD-4.0.0 | 4.79098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29701E-06 | 0 | 0 |
| T/K | rs1272812744 |
None | 0.006 | N | 0.172 | 0.151 | 0.357724736475 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs1272812744 |
None | 0.006 | N | 0.172 | 0.151 | 0.357724736475 | gnomAD-4.0.0 | 1.85984E-06 | None | None | None | None | N | None | 1.33604E-05 | 0 | None | 3.38021E-05 | 0 | None | 0 | 0 | 8.47745E-07 | 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 | 0.0751 | likely_benign | 0.0733 | benign | -0.655 | Destabilizing | 0.002 | N | 0.09 | neutral | N | 0.493852503 | None | None | N |
| T/C | 0.2706 | likely_benign | 0.2873 | benign | -0.33 | Destabilizing | 0.995 | D | 0.317 | neutral | None | None | None | None | N |
| T/D | 0.2328 | likely_benign | 0.2275 | benign | -0.187 | Destabilizing | 0.543 | D | 0.317 | neutral | None | None | None | None | N |
| T/E | 0.1531 | likely_benign | 0.1558 | benign | -0.211 | Destabilizing | 0.007 | N | 0.169 | neutral | None | None | None | None | N |
| T/F | 0.1579 | likely_benign | 0.1569 | benign | -0.748 | Destabilizing | 0.007 | N | 0.213 | neutral | None | None | None | None | N |
| T/G | 0.1949 | likely_benign | 0.1976 | benign | -0.89 | Destabilizing | 0.329 | N | 0.329 | neutral | None | None | None | None | N |
| T/H | 0.1624 | likely_benign | 0.1646 | benign | -1.145 | Destabilizing | 0.944 | D | 0.349 | neutral | None | None | None | None | N |
| T/I | 0.0872 | likely_benign | 0.0875 | benign | -0.126 | Destabilizing | 0.473 | N | 0.323 | neutral | N | 0.442925037 | None | None | N |
| T/K | 0.1315 | likely_benign | 0.1294 | benign | -0.757 | Destabilizing | 0.006 | N | 0.172 | neutral | N | 0.490118765 | None | None | N |
| T/L | 0.0754 | likely_benign | 0.0724 | benign | -0.126 | Destabilizing | 0.329 | N | 0.332 | neutral | None | None | None | None | N |
| T/M | 0.0748 | likely_benign | 0.0723 | benign | 0.128 | Stabilizing | 0.944 | D | 0.333 | neutral | None | None | None | None | N |
| T/N | 0.0882 | likely_benign | 0.0878 | benign | -0.563 | Destabilizing | 0.704 | D | 0.238 | neutral | None | None | None | None | N |
| T/P | 0.4673 | ambiguous | 0.4344 | ambiguous | -0.27 | Destabilizing | 0.784 | D | 0.393 | neutral | N | 0.485700831 | None | None | N |
| T/Q | 0.1402 | likely_benign | 0.1392 | benign | -0.745 | Destabilizing | 0.543 | D | 0.403 | neutral | None | None | None | None | N |
| T/R | 0.1266 | likely_benign | 0.123 | benign | -0.462 | Destabilizing | 0.473 | N | 0.363 | neutral | N | 0.465204464 | None | None | N |
| T/S | 0.0893 | likely_benign | 0.0906 | benign | -0.802 | Destabilizing | 0.023 | N | 0.119 | neutral | N | 0.474440023 | None | None | N |
| T/V | 0.0806 | likely_benign | 0.0805 | benign | -0.27 | Destabilizing | 0.031 | N | 0.138 | neutral | None | None | None | None | N |
| T/W | 0.4573 | ambiguous | 0.4688 | ambiguous | -0.712 | Destabilizing | 0.995 | D | 0.345 | neutral | None | None | None | None | N |
| T/Y | 0.1899 | likely_benign | 0.1966 | benign | -0.498 | Destabilizing | 0.807 | D | 0.414 | 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.