Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2759 | 8500;8501;8502 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
| N2AB | 2759 | 8500;8501;8502 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
| N2A | 2759 | 8500;8501;8502 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
| N2B | 2713 | 8362;8363;8364 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
| Novex-1 | 2713 | 8362;8363;8364 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
| Novex-2 | 2713 | 8362;8363;8364 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
| Novex-3 | 2759 | 8500;8501;8502 | chr2:178770517;178770516;178770515 | chr2:179635244;179635243;179635242 |
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/E | None | None | 1.0 | D | 0.677 | 0.587 | 0.851598590201 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-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 | 0.4231 | ambiguous | 0.4695 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.549 | neutral | D | 0.724076343 | None | None | N |
| G/C | 0.7209 | likely_pathogenic | 0.797 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/D | 0.1195 | likely_benign | 0.1357 | benign | -0.657 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| G/E | 0.2415 | likely_benign | 0.2845 | benign | -0.747 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.725484115 | None | None | N |
| G/F | 0.9603 | likely_pathogenic | 0.9749 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/H | 0.7349 | likely_pathogenic | 0.7948 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| G/I | 0.9052 | likely_pathogenic | 0.9354 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/K | 0.6862 | likely_pathogenic | 0.7737 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| G/L | 0.9086 | likely_pathogenic | 0.9344 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/M | 0.9099 | likely_pathogenic | 0.9373 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/N | 0.3144 | likely_benign | 0.3421 | ambiguous | -0.629 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| G/P | 0.9605 | likely_pathogenic | 0.976 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/Q | 0.6031 | likely_pathogenic | 0.6707 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/R | 0.6571 | likely_pathogenic | 0.753 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.68743576 | None | None | N |
| G/S | 0.2265 | likely_benign | 0.2478 | benign | -0.826 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| G/T | 0.6184 | likely_pathogenic | 0.6663 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/V | 0.784 | likely_pathogenic | 0.8445 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.722816637 | None | None | N |
| G/W | 0.8662 | likely_pathogenic | 0.9101 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8106 | likely_pathogenic | 0.8723 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.694 | prob.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.