Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1905 | 5938;5939;5940 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
| N2AB | 1905 | 5938;5939;5940 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
| N2A | 1905 | 5938;5939;5940 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
| N2B | 1859 | 5800;5801;5802 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
| Novex-1 | 1859 | 5800;5801;5802 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
| Novex-2 | 1859 | 5800;5801;5802 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
| Novex-3 | 1905 | 5938;5939;5940 | chr2:178776151;178776150;178776149 | chr2:179640878;179640877;179640876 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1265838947  |
0.137 | 1.0 | D | 0.663 | 0.639 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| Y/C | rs1265838947 |
0.137 | 1.0 | D | 0.663 | 0.639 | None | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02151E-05 |
| Y/H | rs1477069650 |
0.505 | 1.0 | N | 0.629 | 0.511 | 0.49908893446 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1477069650 |
0.505 | 1.0 | N | 0.629 | 0.511 | 0.49908893446 | gnomAD-4.0.0 | 2.53106E-05 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 3.14756E-05 | 0 | 1.65579E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9759 | likely_pathogenic | 0.9533 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| Y/C | 0.9338 | likely_pathogenic | 0.8549 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.663 | neutral | D | 0.56292331 | None | None | N |
| Y/D | 0.9794 | likely_pathogenic | 0.9413 | pathogenic | 1.07 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.447834081 | None | None | N |
| Y/E | 0.9948 | likely_pathogenic | 0.9874 | pathogenic | 1.056 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| Y/F | 0.375 | ambiguous | 0.2892 | benign | -0.393 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.506281803 | None | None | N |
| Y/G | 0.9566 | likely_pathogenic | 0.9229 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| Y/H | 0.9694 | likely_pathogenic | 0.9284 | pathogenic | 0.229 | Stabilizing | 1.0 | D | 0.629 | neutral | N | 0.496810015 | None | None | N |
| Y/I | 0.9656 | likely_pathogenic | 0.9377 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| Y/K | 0.9957 | likely_pathogenic | 0.9896 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| Y/L | 0.9153 | likely_pathogenic | 0.8686 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| Y/M | 0.9721 | likely_pathogenic | 0.9547 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| Y/N | 0.9371 | likely_pathogenic | 0.8578 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.484027574 | None | None | N |
| Y/P | 0.9854 | likely_pathogenic | 0.9771 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| Y/Q | 0.9939 | likely_pathogenic | 0.9867 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| Y/R | 0.9829 | likely_pathogenic | 0.9666 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| Y/S | 0.89 | likely_pathogenic | 0.7929 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.399730393 | None | None | N |
| Y/T | 0.9684 | likely_pathogenic | 0.9356 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| Y/V | 0.9356 | likely_pathogenic | 0.8921 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| Y/W | 0.7707 | likely_pathogenic | 0.7408 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.621 | 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.