Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35449 | 106570;106571;106572 | chr2:178530270;178530269;178530268 | chr2:179394997;179394996;179394995 |
| N2AB | 33808 | 101647;101648;101649 | chr2:178530270;178530269;178530268 | chr2:179394997;179394996;179394995 |
| N2A | 32881 | 98866;98867;98868 | chr2:178530270;178530269;178530268 | chr2:179394997;179394996;179394995 |
| N2B | 26384 | 79375;79376;79377 | chr2:178530270;178530269;178530268 | chr2:179394997;179394996;179394995 |
| Novex-1 | 26509 | 79750;79751;79752 | chr2:178530270;178530269;178530268 | chr2:179394997;179394996;179394995 |
| Novex-2 | 26576 | 79951;79952;79953 | chr2:178530270;178530269;178530268 | chr2:179394997;179394996;179394995 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1688512562  |
None | 1.0 | D | 0.847 | 0.735 | 0.673546118213 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| P/L | rs1688512562 |
None | 1.0 | D | 0.847 | 0.735 | 0.673546118213 | gnomAD-4.0.0 | 6.56538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| P/Q | rs1688512562 |
None | 1.0 | D | 0.864 | 0.747 | 0.539792608675 | gnomAD-4.0.0 | 6.43209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11179E-04 | None | 0 | 0 | 0 | 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 | 0.3436 | ambiguous | 0.3585 | ambiguous | -1.892 | Destabilizing | 0.999 | D | 0.742 | deleterious | D | 0.522054148 | None | None | N |
| P/C | 0.9023 | likely_pathogenic | 0.9142 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/D | 0.9848 | likely_pathogenic | 0.9863 | pathogenic | -2.199 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/E | 0.9476 | likely_pathogenic | 0.9503 | pathogenic | -2.114 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/F | 0.9477 | likely_pathogenic | 0.9557 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/G | 0.877 | likely_pathogenic | 0.8867 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/H | 0.9252 | likely_pathogenic | 0.9364 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/I | 0.6981 | likely_pathogenic | 0.717 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/K | 0.9694 | likely_pathogenic | 0.9732 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/L | 0.4795 | ambiguous | 0.5151 | ambiguous | -0.83 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.530026184 | None | None | N |
| P/M | 0.8102 | likely_pathogenic | 0.8302 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/N | 0.9634 | likely_pathogenic | 0.9664 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Q | 0.8725 | likely_pathogenic | 0.8795 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.568822496 | None | None | N |
| P/R | 0.9318 | likely_pathogenic | 0.9409 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.557301607 | None | None | N |
| P/S | 0.7597 | likely_pathogenic | 0.7762 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.550211262 | None | None | N |
| P/T | 0.6435 | likely_pathogenic | 0.6767 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.538690373 | None | None | N |
| P/V | 0.5898 | likely_pathogenic | 0.6114 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/W | 0.9856 | likely_pathogenic | 0.9881 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/Y | 0.9638 | likely_pathogenic | 0.9701 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.865 | 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.