Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20490 | 61693;61694;61695 | chr2:178590257;178590256;178590255 | chr2:179454984;179454983;179454982 |
| N2AB | 18849 | 56770;56771;56772 | chr2:178590257;178590256;178590255 | chr2:179454984;179454983;179454982 |
| N2A | 17922 | 53989;53990;53991 | chr2:178590257;178590256;178590255 | chr2:179454984;179454983;179454982 |
| N2B | 11425 | 34498;34499;34500 | chr2:178590257;178590256;178590255 | chr2:179454984;179454983;179454982 |
| Novex-1 | 11550 | 34873;34874;34875 | chr2:178590257;178590256;178590255 | chr2:179454984;179454983;179454982 |
| Novex-2 | 11617 | 35074;35075;35076 | chr2:178590257;178590256;178590255 | chr2:179454984;179454983;179454982 |
| 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/A | None | None | 0.999 | N | 0.503 | 0.34 | 0.46614307118 | gnomAD-4.0.0 | 3.49814E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.56086E-06 | 0 | 0 |
| V/I | rs777345561  |
-0.369 | 0.997 | N | 0.463 | 0.276 | 0.506673610527 | gnomAD-2.1.1 | 4.53E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.37E-05 | None | 0 | 0 | 0 |
| V/I | rs777345561 |
-0.369 | 0.997 | N | 0.463 | 0.276 | 0.506673610527 | gnomAD-4.0.0 | 1.39927E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.51978E-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 | 0.1586 | likely_benign | 0.1969 | benign | -0.863 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.418151518 | None | None | I |
| V/C | 0.8345 | likely_pathogenic | 0.8553 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| V/D | 0.7833 | likely_pathogenic | 0.8237 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| V/E | 0.5987 | likely_pathogenic | 0.6399 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.434752979 | None | None | I |
| V/F | 0.4972 | ambiguous | 0.5651 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| V/G | 0.4364 | ambiguous | 0.4772 | ambiguous | -1.057 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.466785384 | None | None | I |
| V/H | 0.8565 | likely_pathogenic | 0.8916 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| V/I | 0.1493 | likely_benign | 0.16 | benign | -0.48 | Destabilizing | 0.997 | D | 0.463 | neutral | N | 0.494420145 | None | None | I |
| V/K | 0.7083 | likely_pathogenic | 0.7304 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| V/L | 0.625 | likely_pathogenic | 0.6755 | pathogenic | -0.48 | Destabilizing | 0.997 | D | 0.516 | neutral | N | 0.477295822 | None | None | I |
| V/M | 0.3497 | ambiguous | 0.3984 | ambiguous | -0.402 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| V/N | 0.58 | likely_pathogenic | 0.6463 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| V/P | 0.8523 | likely_pathogenic | 0.8675 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| V/Q | 0.6172 | likely_pathogenic | 0.6603 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/R | 0.6752 | likely_pathogenic | 0.6958 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| V/S | 0.2866 | likely_benign | 0.3403 | ambiguous | -0.925 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| V/T | 0.2463 | likely_benign | 0.2808 | benign | -0.915 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | I |
| V/W | 0.9719 | likely_pathogenic | 0.9759 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| V/Y | 0.868 | likely_pathogenic | 0.8992 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
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.