Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2520 | 7783;7784;7785 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
| N2AB | 2520 | 7783;7784;7785 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
| N2A | 2520 | 7783;7784;7785 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
| N2B | 2474 | 7645;7646;7647 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
| Novex-1 | 2474 | 7645;7646;7647 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
| Novex-2 | 2474 | 7645;7646;7647 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
| Novex-3 | 2520 | 7783;7784;7785 | chr2:178773498;178773497;178773496 | chr2:179638225;179638224;179638223 |
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 | None | None | 1.0 | D | 0.719 | 0.733 | 0.749366424934 | gnomAD-4.0.0 | 1.36824E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79866E-06 | 0 | 0 |
| G/V | rs1173402678  |
None | 1.0 | D | 0.701 | 0.724 | 0.850167568098 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 8.64553E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1173402678 |
None | 1.0 | D | 0.701 | 0.724 | 0.850167568098 | gnomAD-4.0.0 | 3.71777E-06 | None | None | None | None | I | None | 0 | 0 | None | 1.68908E-04 | 0 | None | 0 | 0 | 8.47489E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6641 | likely_pathogenic | 0.6742 | pathogenic | -0.222 | Destabilizing | 0.999 | D | 0.562 | neutral | D | 0.633341944 | None | None | I |
| G/C | 0.8613 | likely_pathogenic | 0.8778 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.713005859 | None | None | I |
| G/D | 0.9417 | likely_pathogenic | 0.9487 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.601390645 | None | None | I |
| G/E | 0.9648 | likely_pathogenic | 0.9678 | pathogenic | -0.443 | Destabilizing | 0.991 | D | 0.525 | neutral | None | None | None | None | I |
| G/F | 0.9921 | likely_pathogenic | 0.9929 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/H | 0.9821 | likely_pathogenic | 0.9846 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/I | 0.9909 | likely_pathogenic | 0.992 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| G/K | 0.9851 | likely_pathogenic | 0.986 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/L | 0.9783 | likely_pathogenic | 0.9818 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/M | 0.9902 | likely_pathogenic | 0.9917 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| G/N | 0.9352 | likely_pathogenic | 0.9465 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/P | 0.9943 | likely_pathogenic | 0.9952 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/Q | 0.9649 | likely_pathogenic | 0.968 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/R | 0.9627 | likely_pathogenic | 0.9644 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.65127287 | None | None | I |
| G/S | 0.5426 | ambiguous | 0.5653 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.611269174 | None | None | I |
| G/T | 0.9448 | likely_pathogenic | 0.9502 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/V | 0.9764 | likely_pathogenic | 0.9792 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.673324073 | None | None | I |
| G/W | 0.9802 | likely_pathogenic | 0.9828 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9847 | likely_pathogenic | 0.9863 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | 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.