Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14962 | 45109;45110;45111 | chr2:178622699;178622698;178622697 | chr2:179487426;179487425;179487424 |
| N2AB | 13321 | 40186;40187;40188 | chr2:178622699;178622698;178622697 | chr2:179487426;179487425;179487424 |
| N2A | 12394 | 37405;37406;37407 | chr2:178622699;178622698;178622697 | chr2:179487426;179487425;179487424 |
| N2B | 5897 | 17914;17915;17916 | chr2:178622699;178622698;178622697 | chr2:179487426;179487425;179487424 |
| Novex-1 | 6022 | 18289;18290;18291 | chr2:178622699;178622698;178622697 | chr2:179487426;179487425;179487424 |
| Novex-2 | 6089 | 18490;18491;18492 | chr2:178622699;178622698;178622697 | chr2:179487426;179487425;179487424 |
| 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/A | None | None | 0.999 | D | 0.68 | 0.609 | 0.661757452181 | gnomAD-4.0.0 | 4.80958E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.3124E-06 | 0 | 0 |
| E/G | None | None | 1.0 | D | 0.741 | 0.61 | 0.729396383729 | gnomAD-4.0.0 | 6.87083E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17697E-05 | 0 |
| E/Q | rs879066606  |
-0.794 | 1.0 | D | 0.624 | 0.376 | None | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 6.86E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs879066606 |
-0.794 | 1.0 | D | 0.624 | 0.376 | None | 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 | rs879066606 |
-0.794 | 1.0 | D | 0.624 | 0.376 | None | gnomAD-4.0.0 | 3.8762E-06 | None | None | None | None | N | None | 1.69929E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.82097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4352 | ambiguous | 0.4006 | ambiguous | -0.721 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | D | 0.63403564 | None | None | N |
| E/C | 0.9745 | likely_pathogenic | 0.9612 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| E/D | 0.6215 | likely_pathogenic | 0.5819 | pathogenic | -1.238 | Destabilizing | 0.999 | D | 0.497 | neutral | D | 0.535552409 | None | None | N |
| E/F | 0.9575 | likely_pathogenic | 0.9433 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/G | 0.6616 | likely_pathogenic | 0.6085 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.637450277 | None | None | N |
| E/H | 0.8353 | likely_pathogenic | 0.8154 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| E/I | 0.7225 | likely_pathogenic | 0.7172 | pathogenic | 0.388 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/K | 0.5508 | ambiguous | 0.5398 | ambiguous | -0.779 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.507787521 | None | None | N |
| E/L | 0.8509 | likely_pathogenic | 0.8337 | pathogenic | 0.388 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/M | 0.8456 | likely_pathogenic | 0.8282 | pathogenic | 0.766 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| E/N | 0.8053 | likely_pathogenic | 0.7776 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/P | 0.9876 | likely_pathogenic | 0.9808 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/Q | 0.2935 | likely_benign | 0.2841 | benign | -1.127 | Destabilizing | 1.0 | D | 0.624 | neutral | D | 0.551724341 | None | None | N |
| E/R | 0.6732 | likely_pathogenic | 0.6439 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| E/S | 0.5082 | ambiguous | 0.4788 | ambiguous | -1.641 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| E/T | 0.5271 | ambiguous | 0.4932 | ambiguous | -1.305 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/V | 0.5203 | ambiguous | 0.4962 | ambiguous | 0.04 | Stabilizing | 1.0 | D | 0.763 | deleterious | D | 0.537122192 | None | None | N |
| E/W | 0.99 | likely_pathogenic | 0.9838 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/Y | 0.9377 | likely_pathogenic | 0.9198 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.777 | 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.