Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19792 | 59599;59600;59601 | chr2:178592631;178592630;178592629 | chr2:179457358;179457357;179457356 |
| N2AB | 18151 | 54676;54677;54678 | chr2:178592631;178592630;178592629 | chr2:179457358;179457357;179457356 |
| N2A | 17224 | 51895;51896;51897 | chr2:178592631;178592630;178592629 | chr2:179457358;179457357;179457356 |
| N2B | 10727 | 32404;32405;32406 | chr2:178592631;178592630;178592629 | chr2:179457358;179457357;179457356 |
| Novex-1 | 10852 | 32779;32780;32781 | chr2:178592631;178592630;178592629 | chr2:179457358;179457357;179457356 |
| Novex-2 | 10919 | 32980;32981;32982 | chr2:178592631;178592630;178592629 | chr2:179457358;179457357;179457356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/V | None | None | 0.985 | N | 0.482 | 0.367 | 0.621112526605 | gnomAD-4.0.0 | 1.59254E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9373 | likely_pathogenic | 0.9468 | pathogenic | -1.588 | Destabilizing | 0.989 | D | 0.587 | neutral | None | None | None | None | N |
| M/C | 0.9472 | likely_pathogenic | 0.964 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| M/D | 0.9916 | likely_pathogenic | 0.9942 | pathogenic | -0.307 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| M/E | 0.9747 | likely_pathogenic | 0.9804 | pathogenic | -0.239 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| M/F | 0.684 | likely_pathogenic | 0.6873 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| M/G | 0.9772 | likely_pathogenic | 0.984 | pathogenic | -1.944 | Destabilizing | 0.995 | D | 0.673 | neutral | None | None | None | None | N |
| M/H | 0.9378 | likely_pathogenic | 0.957 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| M/I | 0.9437 | likely_pathogenic | 0.9419 | pathogenic | -0.655 | Destabilizing | 0.985 | D | 0.565 | neutral | N | 0.498576037 | None | None | N |
| M/K | 0.8805 | likely_pathogenic | 0.9081 | pathogenic | -0.371 | Destabilizing | 0.994 | D | 0.63 | neutral | N | 0.489015191 | None | None | N |
| M/L | 0.4149 | ambiguous | 0.4143 | ambiguous | -0.655 | Destabilizing | 0.927 | D | 0.331 | neutral | N | 0.433159122 | None | None | N |
| M/N | 0.9637 | likely_pathogenic | 0.9704 | pathogenic | -0.36 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| M/P | 0.9937 | likely_pathogenic | 0.9965 | pathogenic | -0.938 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| M/Q | 0.8354 | likely_pathogenic | 0.8799 | pathogenic | -0.346 | Destabilizing | 0.999 | D | 0.594 | neutral | None | None | None | None | N |
| M/R | 0.8864 | likely_pathogenic | 0.9159 | pathogenic | -0.101 | Destabilizing | 0.998 | D | 0.655 | neutral | N | 0.467466483 | None | None | N |
| M/S | 0.9582 | likely_pathogenic | 0.9682 | pathogenic | -1.035 | Destabilizing | 0.995 | D | 0.6 | neutral | None | None | None | None | N |
| M/T | 0.8971 | likely_pathogenic | 0.9175 | pathogenic | -0.835 | Destabilizing | 0.994 | D | 0.625 | neutral | N | 0.473773593 | None | None | N |
| M/V | 0.4377 | ambiguous | 0.4595 | ambiguous | -0.938 | Destabilizing | 0.985 | D | 0.482 | neutral | N | 0.497189171 | None | None | N |
| M/W | 0.9455 | likely_pathogenic | 0.9574 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| M/Y | 0.9198 | likely_pathogenic | 0.9351 | pathogenic | -0.534 | Destabilizing | 0.999 | D | 0.693 | 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.