Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17696 | 53311;53312;53313 | chr2:178607602;178607601;178607600 | chr2:179472329;179472328;179472327 |
| N2AB | 16055 | 48388;48389;48390 | chr2:178607602;178607601;178607600 | chr2:179472329;179472328;179472327 |
| N2A | 15128 | 45607;45608;45609 | chr2:178607602;178607601;178607600 | chr2:179472329;179472328;179472327 |
| N2B | 8631 | 26116;26117;26118 | chr2:178607602;178607601;178607600 | chr2:179472329;179472328;179472327 |
| Novex-1 | 8756 | 26491;26492;26493 | chr2:178607602;178607601;178607600 | chr2:179472329;179472328;179472327 |
| Novex-2 | 8823 | 26692;26693;26694 | chr2:178607602;178607601;178607600 | chr2:179472329;179472328;179472327 |
| 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 | rs764155048  |
-0.621 | 0.999 | N | 0.615 | 0.615 | 0.670712675582 | gnomAD-4.0.0 | 3.18507E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8659E-05 | 0 |
| V/G | None | None | 1.0 | D | 0.823 | 0.759 | 0.863498451129 | gnomAD-4.0.0 | 1.59253E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| V/L | None | None | 0.997 | D | 0.668 | 0.506 | 0.726976991548 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.868 | likely_pathogenic | 0.8729 | pathogenic | -1.154 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.492202717 | None | None | I |
| V/C | 0.9564 | likely_pathogenic | 0.9583 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| V/D | 0.9952 | likely_pathogenic | 0.9958 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| V/E | 0.9857 | likely_pathogenic | 0.9862 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.605267103 | None | None | I |
| V/F | 0.7153 | likely_pathogenic | 0.6783 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| V/G | 0.9398 | likely_pathogenic | 0.9466 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.559994996 | None | None | I |
| V/H | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| V/I | 0.1064 | likely_benign | 0.0987 | benign | -0.625 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | I |
| V/K | 0.993 | likely_pathogenic | 0.9939 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| V/L | 0.6849 | likely_pathogenic | 0.65 | pathogenic | -0.625 | Destabilizing | 0.997 | D | 0.668 | neutral | D | 0.571418302 | None | None | I |
| V/M | 0.7003 | likely_pathogenic | 0.6793 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.572592608 | None | None | I |
| V/N | 0.9904 | likely_pathogenic | 0.9913 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| V/P | 0.9915 | likely_pathogenic | 0.9934 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| V/Q | 0.9866 | likely_pathogenic | 0.9873 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| V/R | 0.9868 | likely_pathogenic | 0.9881 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| V/S | 0.9575 | likely_pathogenic | 0.9608 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| V/T | 0.8865 | likely_pathogenic | 0.8886 | pathogenic | -1.023 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | I |
| V/W | 0.9931 | likely_pathogenic | 0.9926 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| V/Y | 0.9741 | likely_pathogenic | 0.9751 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.806 | 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.