Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27065 | 81418;81419;81420 | chr2:178564939;178564938;178564937 | chr2:179429666;179429665;179429664 |
| N2AB | 25424 | 76495;76496;76497 | chr2:178564939;178564938;178564937 | chr2:179429666;179429665;179429664 |
| N2A | 24497 | 73714;73715;73716 | chr2:178564939;178564938;178564937 | chr2:179429666;179429665;179429664 |
| N2B | 18000 | 54223;54224;54225 | chr2:178564939;178564938;178564937 | chr2:179429666;179429665;179429664 |
| Novex-1 | 18125 | 54598;54599;54600 | chr2:178564939;178564938;178564937 | chr2:179429666;179429665;179429664 |
| Novex-2 | 18192 | 54799;54800;54801 | chr2:178564939;178564938;178564937 | chr2:179429666;179429665;179429664 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs1374004935  |
-1.624 | 0.177 | N | 0.737 | 0.152 | 0.12205267543 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| I/V | None | None | None | N | 0.152 | 0.071 | 0.141422826196 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1426 | likely_benign | 0.1276 | benign | -1.322 | Destabilizing | 0.016 | N | 0.605 | neutral | None | None | None | None | N |
| I/C | 0.4649 | ambiguous | 0.4387 | ambiguous | -0.906 | Destabilizing | 0.685 | D | 0.693 | prob.delet. | None | None | None | None | N |
| I/D | 0.5723 | likely_pathogenic | 0.51 | ambiguous | -0.703 | Destabilizing | 0.221 | N | 0.789 | deleterious | None | None | None | None | N |
| I/E | 0.423 | ambiguous | 0.3695 | ambiguous | -0.724 | Destabilizing | 0.221 | N | 0.764 | deleterious | None | None | None | None | N |
| I/F | 0.1428 | likely_benign | 0.1321 | benign | -0.892 | Destabilizing | 0.177 | N | 0.737 | deleterious | N | 0.461766317 | None | None | N |
| I/G | 0.4809 | ambiguous | 0.4293 | ambiguous | -1.604 | Destabilizing | 0.075 | N | 0.731 | deleterious | None | None | None | None | N |
| I/H | 0.3637 | ambiguous | 0.326 | benign | -0.718 | Destabilizing | 0.869 | D | 0.765 | deleterious | None | None | None | None | N |
| I/K | 0.2452 | likely_benign | 0.2138 | benign | -0.922 | Destabilizing | 0.221 | N | 0.756 | deleterious | None | None | None | None | N |
| I/L | 0.0838 | likely_benign | 0.0806 | benign | -0.648 | Destabilizing | None | N | 0.225 | neutral | N | 0.479514982 | None | None | N |
| I/M | 0.0768 | likely_benign | 0.0756 | benign | -0.561 | Destabilizing | 0.177 | N | 0.671 | prob.neutral | N | 0.463033765 | None | None | N |
| I/N | 0.1976 | likely_benign | 0.181 | benign | -0.777 | Destabilizing | 0.177 | N | 0.803 | deleterious | N | 0.461766317 | None | None | N |
| I/P | 0.4862 | ambiguous | 0.4395 | ambiguous | -0.84 | Destabilizing | 0.366 | N | 0.8 | deleterious | None | None | None | None | N |
| I/Q | 0.2906 | likely_benign | 0.253 | benign | -0.966 | Destabilizing | 0.366 | N | 0.811 | deleterious | None | None | None | None | N |
| I/R | 0.1933 | likely_benign | 0.1643 | benign | -0.292 | Destabilizing | 0.221 | N | 0.812 | deleterious | None | None | None | None | N |
| I/S | 0.1672 | likely_benign | 0.1544 | benign | -1.358 | Destabilizing | 0.03 | N | 0.641 | neutral | N | 0.492732208 | None | None | N |
| I/T | 0.0691 | likely_benign | 0.0676 | benign | -1.266 | Destabilizing | None | N | 0.404 | neutral | N | 0.441033952 | None | None | N |
| I/V | 0.0524 | likely_benign | 0.051 | benign | -0.84 | Destabilizing | None | N | 0.152 | neutral | N | 0.429240877 | None | None | N |
| I/W | 0.7167 | likely_pathogenic | 0.6914 | pathogenic | -0.925 | Destabilizing | 0.869 | D | 0.785 | deleterious | None | None | None | None | N |
| I/Y | 0.4456 | ambiguous | 0.4038 | ambiguous | -0.711 | Destabilizing | 0.366 | N | 0.753 | deleterious | 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.