Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15439 | 46540;46541;46542 | chr2:178620102;178620101;178620100 | chr2:179484829;179484828;179484827 |
| N2AB | 13798 | 41617;41618;41619 | chr2:178620102;178620101;178620100 | chr2:179484829;179484828;179484827 |
| N2A | 12871 | 38836;38837;38838 | chr2:178620102;178620101;178620100 | chr2:179484829;179484828;179484827 |
| N2B | 6374 | 19345;19346;19347 | chr2:178620102;178620101;178620100 | chr2:179484829;179484828;179484827 |
| Novex-1 | 6499 | 19720;19721;19722 | chr2:178620102;178620101;178620100 | chr2:179484829;179484828;179484827 |
| Novex-2 | 6566 | 19921;19922;19923 | chr2:178620102;178620101;178620100 | chr2:179484829;179484828;179484827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 0.999 | D | 0.493 | 0.359 | 0.463501289208 | gnomAD-4.0.0 | 1.60193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87049E-06 | 0 | 0 |
| E/K | None | None | 0.997 | N | 0.489 | 0.34 | 0.362361684037 | gnomAD-4.0.0 | 1.37266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00774E-07 | 0 | 1.6613E-05 |
| E/Q | rs758101152  |
-0.312 | 0.999 | N | 0.443 | 0.246 | 0.359763055319 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| E/Q | rs758101152 |
-0.312 | 0.999 | N | 0.443 | 0.246 | 0.359763055319 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs758101152 |
-0.312 | 0.999 | N | 0.443 | 0.246 | 0.359763055319 | gnomAD-4.0.0 | 1.24315E-06 | None | None | None | None | N | None | 1.34034E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4887E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4515 | ambiguous | 0.4751 | ambiguous | -0.531 | Destabilizing | 0.98 | D | 0.479 | neutral | N | 0.50646609 | None | None | N |
| E/C | 0.9464 | likely_pathogenic | 0.9545 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| E/D | 0.3784 | ambiguous | 0.4611 | ambiguous | -0.809 | Destabilizing | 0.997 | D | 0.425 | neutral | D | 0.564865207 | None | None | N |
| E/F | 0.8872 | likely_pathogenic | 0.9009 | pathogenic | -0.098 | Destabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| E/G | 0.5682 | likely_pathogenic | 0.6236 | pathogenic | -0.831 | Destabilizing | 0.999 | D | 0.493 | neutral | D | 0.581825729 | None | None | N |
| E/H | 0.7297 | likely_pathogenic | 0.7644 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.439 | neutral | None | None | None | None | N |
| E/I | 0.5025 | ambiguous | 0.469 | ambiguous | 0.262 | Stabilizing | 0.971 | D | 0.554 | neutral | None | None | None | None | N |
| E/K | 0.4621 | ambiguous | 0.4473 | ambiguous | -0.188 | Destabilizing | 0.997 | D | 0.489 | neutral | N | 0.50765252 | None | None | N |
| E/L | 0.597 | likely_pathogenic | 0.59 | pathogenic | 0.262 | Stabilizing | 0.171 | N | 0.377 | neutral | None | None | None | None | N |
| E/M | 0.681 | likely_pathogenic | 0.6766 | pathogenic | 0.408 | Stabilizing | 0.996 | D | 0.581 | neutral | None | None | None | None | N |
| E/N | 0.6917 | likely_pathogenic | 0.7656 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.456 | neutral | None | None | None | None | N |
| E/P | 0.9885 | likely_pathogenic | 0.9931 | pathogenic | 0.019 | Stabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| E/Q | 0.2268 | likely_benign | 0.2399 | benign | -0.545 | Destabilizing | 0.999 | D | 0.443 | neutral | N | 0.511931691 | None | None | N |
| E/R | 0.5745 | likely_pathogenic | 0.5915 | pathogenic | 0.113 | Stabilizing | 0.999 | D | 0.456 | neutral | None | None | None | None | N |
| E/S | 0.5026 | ambiguous | 0.5564 | ambiguous | -0.843 | Destabilizing | 0.993 | D | 0.433 | neutral | None | None | None | None | N |
| E/T | 0.5105 | ambiguous | 0.5555 | ambiguous | -0.6 | Destabilizing | 0.985 | D | 0.47 | neutral | None | None | None | None | N |
| E/V | 0.3406 | ambiguous | 0.326 | benign | 0.019 | Stabilizing | 0.4 | N | 0.315 | neutral | N | 0.510824972 | None | None | N |
| E/W | 0.9643 | likely_pathogenic | 0.9701 | pathogenic | 0.116 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| E/Y | 0.8546 | likely_pathogenic | 0.8724 | pathogenic | 0.147 | Stabilizing | 0.999 | D | 0.587 | 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.