Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
| N2AB | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
| N2A | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
| N2B | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
| Novex-1 | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
| Novex-2 | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
| Novex-3 | 104 | 535;536;537 | chr2:178800668;178800667;178800666 | chr2:179665395;179665394;179665393 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs752692701  |
-2.306 | 1.0 | D | 0.909 | 0.762 | 0.763886952847 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | -0.724(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/S | rs752692701 |
-2.306 | 1.0 | D | 0.909 | 0.762 | 0.763886952847 | gnomAD-4.0.0 | 8.013E-06 | None | None | None | -0.724(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43814E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4667 | ambiguous | 0.5074 | ambiguous | -1.697 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.737397466 | None | -0.565(TCAP) | N |
| P/C | 0.9798 | likely_pathogenic | 0.985 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -1.108(TCAP) | N |
| P/D | 0.9839 | likely_pathogenic | 0.9874 | pathogenic | -2.195 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | -1.203(TCAP) | N |
| P/E | 0.9519 | likely_pathogenic | 0.9642 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | -1.386(TCAP) | N |
| P/F | 0.9941 | likely_pathogenic | 0.9954 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | -0.515(TCAP) | N |
| P/G | 0.9443 | likely_pathogenic | 0.9541 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -0.447(TCAP) | N |
| P/H | 0.9705 | likely_pathogenic | 0.9775 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.801448615 | None | -0.383(TCAP) | N |
| P/I | 0.927 | likely_pathogenic | 0.9457 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | -0.98(TCAP) | N |
| P/K | 0.975 | likely_pathogenic | 0.9809 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | -1.689(TCAP) | N |
| P/L | 0.8085 | likely_pathogenic | 0.8512 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.725397895 | None | -0.98(TCAP) | N |
| P/M | 0.9645 | likely_pathogenic | 0.9732 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | -0.835(TCAP) | N |
| P/N | 0.9818 | likely_pathogenic | 0.9868 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -0.916(TCAP) | N |
| P/Q | 0.9288 | likely_pathogenic | 0.947 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -1.067(TCAP) | N |
| P/R | 0.9301 | likely_pathogenic | 0.9461 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.801941129 | None | -1.652(TCAP) | N |
| P/S | 0.8423 | likely_pathogenic | 0.8735 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.770230805 | None | -0.724(TCAP) | N |
| P/T | 0.8135 | likely_pathogenic | 0.8578 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.801941129 | None | -0.914(TCAP) | N |
| P/V | 0.8186 | likely_pathogenic | 0.8572 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | -0.832(TCAP) | N |
| P/W | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | -0.693(TCAP) | N |
| P/Y | 0.994 | likely_pathogenic | 0.9952 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -0.506(TCAP) | 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.