Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5725 | 17398;17399;17400 | chr2:178731702;178731701;178731700 | chr2:179596429;179596428;179596427 |
| N2AB | 5408 | 16447;16448;16449 | chr2:178731702;178731701;178731700 | chr2:179596429;179596428;179596427 |
| N2A | 4481 | 13666;13667;13668 | chr2:178731702;178731701;178731700 | chr2:179596429;179596428;179596427 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.896 | N | 0.412 | 0.314 | 0.321393169273 | gnomAD-4.0.0 | 1.60281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88455E-06 | 0 | 0 |
| T/N | rs776879170  |
-0.652 | 0.379 | D | 0.395 | 0.226 | 0.248417906384 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.3238E-04 | None | 0 | 0 | 0 |
| T/N | rs776879170 |
-0.652 | 0.379 | D | 0.395 | 0.226 | 0.248417906384 | 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 |
| T/N | rs776879170 |
-0.652 | 0.379 | D | 0.395 | 0.226 | 0.248417906384 | gnomAD-4.0.0 | 1.54628E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.48116E-04 | 2.85796E-05 |
| T/S | rs781556763 |
None | 0.016 | N | 0.177 | 0.133 | 0.0401082797425 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| T/S | rs781556763 |
None | 0.016 | N | 0.177 | 0.133 | 0.0401082797425 | gnomAD-4.0.0 | 3.20556E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.76961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0792 | likely_benign | 0.0827 | benign | -0.936 | Destabilizing | 0.201 | N | 0.41 | neutral | D | 0.526074857 | None | None | N |
| T/C | 0.3241 | likely_benign | 0.3322 | benign | -0.612 | Destabilizing | 0.992 | D | 0.433 | neutral | None | None | None | None | N |
| T/D | 0.3197 | likely_benign | 0.3118 | benign | -0.374 | Destabilizing | 0.617 | D | 0.405 | neutral | None | None | None | None | N |
| T/E | 0.2569 | likely_benign | 0.2544 | benign | -0.255 | Destabilizing | 0.617 | D | 0.435 | neutral | None | None | None | None | N |
| T/F | 0.1339 | likely_benign | 0.1392 | benign | -0.7 | Destabilizing | 0.92 | D | 0.53 | neutral | None | None | None | None | N |
| T/G | 0.2163 | likely_benign | 0.2187 | benign | -1.302 | Destabilizing | 0.447 | N | 0.528 | neutral | None | None | None | None | N |
| T/H | 0.192 | likely_benign | 0.1929 | benign | -1.431 | Destabilizing | 0.977 | D | 0.511 | neutral | None | None | None | None | N |
| T/I | 0.1048 | likely_benign | 0.1078 | benign | -0.015 | Destabilizing | 0.896 | D | 0.412 | neutral | N | 0.5147245 | None | None | N |
| T/K | 0.1907 | likely_benign | 0.1887 | benign | -0.483 | Destabilizing | 0.009 | N | 0.18 | neutral | None | None | None | None | N |
| T/L | 0.0755 | likely_benign | 0.0763 | benign | -0.015 | Destabilizing | 0.617 | D | 0.431 | neutral | None | None | None | None | N |
| T/M | 0.0785 | likely_benign | 0.083 | benign | -0.022 | Destabilizing | 0.992 | D | 0.435 | neutral | None | None | None | None | N |
| T/N | 0.1023 | likely_benign | 0.1014 | benign | -0.799 | Destabilizing | 0.379 | N | 0.395 | neutral | D | 0.534579697 | None | None | N |
| T/P | 0.276 | likely_benign | 0.3195 | benign | -0.289 | Destabilizing | 0.896 | D | 0.397 | neutral | N | 0.520196681 | None | None | N |
| T/Q | 0.1874 | likely_benign | 0.1866 | benign | -0.723 | Destabilizing | 0.85 | D | 0.397 | neutral | None | None | None | None | N |
| T/R | 0.155 | likely_benign | 0.1509 | benign | -0.529 | Destabilizing | 0.447 | N | 0.401 | neutral | None | None | None | None | N |
| T/S | 0.0913 | likely_benign | 0.0919 | benign | -1.13 | Destabilizing | 0.016 | N | 0.177 | neutral | N | 0.511164119 | None | None | N |
| T/V | 0.0999 | likely_benign | 0.1026 | benign | -0.289 | Destabilizing | 0.617 | D | 0.394 | neutral | None | None | None | None | N |
| T/W | 0.436 | ambiguous | 0.4527 | ambiguous | -0.707 | Destabilizing | 0.992 | D | 0.613 | neutral | None | None | None | None | N |
| T/Y | 0.1806 | likely_benign | 0.1824 | benign | -0.395 | Destabilizing | 0.972 | D | 0.533 | 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.