Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17631 | 53116;53117;53118 | chr2:178607896;178607895;178607894 | chr2:179472623;179472622;179472621 |
| N2AB | 15990 | 48193;48194;48195 | chr2:178607896;178607895;178607894 | chr2:179472623;179472622;179472621 |
| N2A | 15063 | 45412;45413;45414 | chr2:178607896;178607895;178607894 | chr2:179472623;179472622;179472621 |
| N2B | 8566 | 25921;25922;25923 | chr2:178607896;178607895;178607894 | chr2:179472623;179472622;179472621 |
| Novex-1 | 8691 | 26296;26297;26298 | chr2:178607896;178607895;178607894 | chr2:179472623;179472622;179472621 |
| Novex-2 | 8758 | 26497;26498;26499 | chr2:178607896;178607895;178607894 | chr2:179472623;179472622;179472621 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs749503285  |
-0.012 | 0.999 | N | 0.547 | 0.355 | 0.649732848243 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 1.24049E-04 | 5.66E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.82E-06 | 0 |
| V/I | rs749503285 |
-0.012 | 0.999 | N | 0.547 | 0.355 | 0.649732848243 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93125E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs749503285 |
-0.012 | 0.999 | N | 0.547 | 0.355 | 0.649732848243 | gnomAD-4.0.0 | 1.674E-05 | None | None | None | None | N | None | 1.33601E-04 | 6.67401E-05 | None | 0 | 0 | None | 0 | 0 | 7.63153E-06 | 4.39213E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6383 | likely_pathogenic | 0.618 | pathogenic | -2.073 | Highly Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.479151281 | None | None | N |
| V/C | 0.915 | likely_pathogenic | 0.9139 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/D | 0.9905 | likely_pathogenic | 0.9881 | pathogenic | -2.682 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.501534724 | None | None | N |
| V/E | 0.9695 | likely_pathogenic | 0.9579 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/F | 0.6936 | likely_pathogenic | 0.6044 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.500632443 | None | None | N |
| V/G | 0.8686 | likely_pathogenic | 0.8573 | pathogenic | -2.6 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.536528692 | None | None | N |
| V/H | 0.9909 | likely_pathogenic | 0.9877 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/I | 0.1037 | likely_benign | 0.0943 | benign | -0.605 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.517540226 | None | None | N |
| V/K | 0.9771 | likely_pathogenic | 0.9696 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/L | 0.4067 | ambiguous | 0.3467 | ambiguous | -0.605 | Destabilizing | 0.999 | D | 0.651 | neutral | N | 0.519998954 | None | None | N |
| V/M | 0.4816 | ambiguous | 0.3941 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/N | 0.9777 | likely_pathogenic | 0.9723 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/P | 0.9595 | likely_pathogenic | 0.9583 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| V/Q | 0.9616 | likely_pathogenic | 0.9507 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| V/R | 0.9639 | likely_pathogenic | 0.9551 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/S | 0.9208 | likely_pathogenic | 0.9103 | pathogenic | -2.785 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/T | 0.8318 | likely_pathogenic | 0.8117 | pathogenic | -2.421 | Highly Destabilizing | 0.999 | D | 0.598 | neutral | None | None | None | None | N |
| V/W | 0.991 | likely_pathogenic | 0.9859 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Y | 0.9667 | likely_pathogenic | 0.9562 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.771 | 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.