Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1725 | 5398;5399;5400 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
| N2AB | 1725 | 5398;5399;5400 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
| N2A | 1725 | 5398;5399;5400 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
| N2B | 1679 | 5260;5261;5262 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
| Novex-1 | 1679 | 5260;5261;5262 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
| Novex-2 | 1679 | 5260;5261;5262 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
| Novex-3 | 1725 | 5398;5399;5400 | chr2:178776691;178776690;178776689 | chr2:179641418;179641417;179641416 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | None | None | 1.0 | D | 0.769 | 0.441 | 0.276482976112 | gnomAD-4.0.0 | 1.59066E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9639 | likely_pathogenic | 0.9676 | pathogenic | -0.982 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | I |
| R/C | 0.7804 | likely_pathogenic | 0.7994 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| R/D | 0.9911 | likely_pathogenic | 0.9921 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| R/E | 0.9364 | likely_pathogenic | 0.94 | pathogenic | 0.052 | Stabilizing | 0.999 | D | 0.608 | neutral | None | None | None | None | I |
| R/F | 0.9539 | likely_pathogenic | 0.9589 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| R/G | 0.9575 | likely_pathogenic | 0.9639 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.604984936 | None | None | I |
| R/H | 0.437 | ambiguous | 0.453 | ambiguous | -1.544 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| R/I | 0.8606 | likely_pathogenic | 0.889 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| R/K | 0.5604 | ambiguous | 0.5594 | ambiguous | -0.883 | Destabilizing | 0.997 | D | 0.456 | neutral | N | 0.49718559 | None | None | I |
| R/L | 0.8142 | likely_pathogenic | 0.8276 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| R/M | 0.9287 | likely_pathogenic | 0.9375 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.669402298 | None | None | I |
| R/N | 0.9771 | likely_pathogenic | 0.9794 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| R/P | 0.993 | likely_pathogenic | 0.9945 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| R/Q | 0.5093 | ambiguous | 0.5173 | ambiguous | -0.533 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| R/S | 0.966 | likely_pathogenic | 0.9707 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.543621239 | None | None | I |
| R/T | 0.9314 | likely_pathogenic | 0.9397 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.498695794 | None | None | I |
| R/V | 0.8904 | likely_pathogenic | 0.9073 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/W | 0.7638 | likely_pathogenic | 0.765 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.670055379 | None | None | I |
| R/Y | 0.8951 | likely_pathogenic | 0.8997 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.781 | 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.