Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20006 | 60241;60242;60243 | chr2:178591803;178591802;178591801 | chr2:179456530;179456529;179456528 |
| N2AB | 18365 | 55318;55319;55320 | chr2:178591803;178591802;178591801 | chr2:179456530;179456529;179456528 |
| N2A | 17438 | 52537;52538;52539 | chr2:178591803;178591802;178591801 | chr2:179456530;179456529;179456528 |
| N2B | 10941 | 33046;33047;33048 | chr2:178591803;178591802;178591801 | chr2:179456530;179456529;179456528 |
| Novex-1 | 11066 | 33421;33422;33423 | chr2:178591803;178591802;178591801 | chr2:179456530;179456529;179456528 |
| Novex-2 | 11133 | 33622;33623;33624 | chr2:178591803;178591802;178591801 | chr2:179456530;179456529;179456528 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.62 | 0.446 | 0.39724302092 | gnomAD-4.0.0 | 2.05322E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99612E-07 | 1.15958E-05 | 1.65711E-05 |
| G/C | None | None | 1.0 | D | 0.795 | 0.519 | 0.596261450992 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-06 | 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 | 0.8353 | likely_pathogenic | 0.8764 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.48601827 | None | None | I |
| G/C | 0.9071 | likely_pathogenic | 0.9373 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.539547795 | None | None | I |
| G/D | 0.9514 | likely_pathogenic | 0.9649 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.508908692 | None | None | I |
| G/E | 0.9727 | likely_pathogenic | 0.9806 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/F | 0.9768 | likely_pathogenic | 0.9805 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/H | 0.9717 | likely_pathogenic | 0.978 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/I | 0.9723 | likely_pathogenic | 0.9768 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9778 | likely_pathogenic | 0.9802 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/L | 0.9651 | likely_pathogenic | 0.9728 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/M | 0.9781 | likely_pathogenic | 0.9824 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9236 | likely_pathogenic | 0.9381 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/P | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Q | 0.9619 | likely_pathogenic | 0.9698 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/R | 0.9456 | likely_pathogenic | 0.9538 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.504807315 | None | None | I |
| G/S | 0.7204 | likely_pathogenic | 0.7848 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.493424556 | None | None | I |
| G/T | 0.9399 | likely_pathogenic | 0.952 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/V | 0.9607 | likely_pathogenic | 0.969 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.52144354 | None | None | I |
| G/W | 0.971 | likely_pathogenic | 0.9758 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.969 | likely_pathogenic | 0.9753 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.