Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13965 | 42118;42119;42120 | chr2:178635296;178635295;178635294 | chr2:179500023;179500022;179500021 |
| N2AB | 12324 | 37195;37196;37197 | chr2:178635296;178635295;178635294 | chr2:179500023;179500022;179500021 |
| N2A | 11397 | 34414;34415;34416 | chr2:178635296;178635295;178635294 | chr2:179500023;179500022;179500021 |
| N2B | 4900 | 14923;14924;14925 | chr2:178635296;178635295;178635294 | chr2:179500023;179500022;179500021 |
| Novex-1 | 5025 | 15298;15299;15300 | chr2:178635296;178635295;178635294 | chr2:179500023;179500022;179500021 |
| Novex-2 | 5092 | 15499;15500;15501 | chr2:178635296;178635295;178635294 | chr2:179500023;179500022;179500021 |
| 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 | 0.029 | N | 0.115 | 0.128 | 0.411665641125 | gnomAD-4.0.0 | 1.36897E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99693E-07 | 1.15996E-05 | 0 |
| V/F | rs1311645939  |
-1.166 | 0.974 | D | 0.444 | 0.274 | 0.686837661534 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs1311645939 |
-1.166 | 0.974 | D | 0.444 | 0.274 | 0.686837661534 | gnomAD-4.0.0 | 1.59282E-06 | None | None | None | None | N | None | 0 | 2.28749E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs878854306 |
-1.752 | 0.728 | D | 0.375 | 0.29 | 0.715243340896 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.72E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs878854306 |
-1.752 | 0.728 | D | 0.375 | 0.29 | 0.715243340896 | gnomAD-4.0.0 | 5.5791E-06 | None | None | None | None | N | None | 0 | 1.5005E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5101 | ambiguous | 0.412 | ambiguous | -1.388 | Destabilizing | 0.029 | N | 0.115 | neutral | N | 0.464796463 | None | None | N |
| V/C | 0.9597 | likely_pathogenic | 0.9411 | pathogenic | -0.973 | Destabilizing | 0.998 | D | 0.331 | neutral | None | None | None | None | N |
| V/D | 0.9863 | likely_pathogenic | 0.9833 | pathogenic | -1.005 | Destabilizing | 0.974 | D | 0.533 | neutral | D | 0.551672473 | None | None | N |
| V/E | 0.9708 | likely_pathogenic | 0.9606 | pathogenic | -1.027 | Destabilizing | 0.981 | D | 0.411 | neutral | None | None | None | None | N |
| V/F | 0.9284 | likely_pathogenic | 0.8715 | pathogenic | -1.19 | Destabilizing | 0.974 | D | 0.444 | neutral | D | 0.551065975 | None | None | N |
| V/G | 0.789 | likely_pathogenic | 0.7608 | pathogenic | -1.685 | Destabilizing | 0.728 | D | 0.375 | neutral | D | 0.551672473 | None | None | N |
| V/H | 0.9963 | likely_pathogenic | 0.9937 | pathogenic | -1.248 | Destabilizing | 0.998 | D | 0.479 | neutral | None | None | None | None | N |
| V/I | 0.2193 | likely_benign | 0.1755 | benign | -0.687 | Destabilizing | 0.067 | N | 0.268 | neutral | N | 0.485768066 | None | None | N |
| V/K | 0.9884 | likely_pathogenic | 0.9804 | pathogenic | -1.128 | Destabilizing | 0.961 | D | 0.444 | neutral | None | None | None | None | N |
| V/L | 0.87 | likely_pathogenic | 0.7655 | pathogenic | -0.687 | Destabilizing | 0.524 | D | 0.299 | neutral | N | 0.501194309 | None | None | N |
| V/M | 0.8097 | likely_pathogenic | 0.7047 | pathogenic | -0.523 | Destabilizing | 0.981 | D | 0.349 | neutral | None | None | None | None | N |
| V/N | 0.9651 | likely_pathogenic | 0.9472 | pathogenic | -0.865 | Destabilizing | 0.981 | D | 0.562 | neutral | None | None | None | None | N |
| V/P | 0.9456 | likely_pathogenic | 0.9103 | pathogenic | -0.885 | Destabilizing | 0.981 | D | 0.485 | neutral | None | None | None | None | N |
| V/Q | 0.9824 | likely_pathogenic | 0.9727 | pathogenic | -1.043 | Destabilizing | 0.994 | D | 0.516 | neutral | None | None | None | None | N |
| V/R | 0.9815 | likely_pathogenic | 0.9703 | pathogenic | -0.621 | Destabilizing | 0.981 | D | 0.579 | neutral | None | None | None | None | N |
| V/S | 0.863 | likely_pathogenic | 0.8017 | pathogenic | -1.392 | Destabilizing | 0.78 | D | 0.357 | neutral | None | None | None | None | N |
| V/T | 0.5656 | likely_pathogenic | 0.4646 | ambiguous | -1.298 | Destabilizing | 0.087 | N | 0.239 | neutral | None | None | None | None | N |
| V/W | 0.9977 | likely_pathogenic | 0.9962 | pathogenic | -1.339 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | N |
| V/Y | 0.9868 | likely_pathogenic | 0.979 | pathogenic | -1.05 | Destabilizing | 0.994 | D | 0.433 | neutral | 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.