Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2497 | 7714;7715;7716 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
| N2AB | 2497 | 7714;7715;7716 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
| N2A | 2497 | 7714;7715;7716 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
| N2B | 2451 | 7576;7577;7578 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
| Novex-1 | 2451 | 7576;7577;7578 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
| Novex-2 | 2451 | 7576;7577;7578 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
| Novex-3 | 2497 | 7714;7715;7716 | chr2:178773567;178773566;178773565 | chr2:179638294;179638293;179638292 |
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/S | rs2091839294  |
None | 0.991 | D | 0.571 | 0.465 | 0.167679373172 | gnomAD-4.0.0 | 1.59068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.6283 | likely_pathogenic | 0.6208 | pathogenic | -0.606 | Destabilizing | 0.998 | D | 0.451 | neutral | D | 0.591098791 | None | None | N |
| G/C | 0.8562 | likely_pathogenic | 0.8523 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.695955552 | None | None | N |
| G/D | 0.7142 | likely_pathogenic | 0.7372 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.576282395 | None | None | N |
| G/E | 0.8316 | likely_pathogenic | 0.843 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/F | 0.98 | likely_pathogenic | 0.9805 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/H | 0.9367 | likely_pathogenic | 0.9394 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/I | 0.9661 | likely_pathogenic | 0.9673 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/K | 0.9536 | likely_pathogenic | 0.9562 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/L | 0.9568 | likely_pathogenic | 0.9564 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/M | 0.9645 | likely_pathogenic | 0.9628 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/N | 0.7211 | likely_pathogenic | 0.7271 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/P | 0.994 | likely_pathogenic | 0.9947 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/Q | 0.9145 | likely_pathogenic | 0.9139 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/R | 0.9391 | likely_pathogenic | 0.9436 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.601524475 | None | None | N |
| G/S | 0.4357 | ambiguous | 0.4255 | ambiguous | -1.013 | Destabilizing | 0.991 | D | 0.571 | neutral | D | 0.596450215 | None | None | N |
| G/T | 0.8398 | likely_pathogenic | 0.8392 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/V | 0.9183 | likely_pathogenic | 0.919 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.694252652 | None | None | N |
| G/W | 0.9527 | likely_pathogenic | 0.9541 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9419 | likely_pathogenic | 0.944 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.721 | 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.