Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1513 | 4762;4763;4764 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
| N2AB | 1513 | 4762;4763;4764 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
| N2A | 1513 | 4762;4763;4764 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
| N2B | 1467 | 4624;4625;4626 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
| Novex-1 | 1467 | 4624;4625;4626 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
| Novex-2 | 1467 | 4624;4625;4626 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
| Novex-3 | 1513 | 4762;4763;4764 | chr2:178777528;178777527;178777526 | chr2:179642255;179642254;179642253 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.999 | N | 0.789 | 0.377 | 0.318828661733 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Q/R | rs1387578127  |
-0.57 | 0.997 | N | 0.64 | 0.509 | 0.347659731818 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs1387578127 |
-0.57 | 0.997 | N | 0.64 | 0.509 | 0.347659731818 | gnomAD-4.0.0 | 6.36444E-06 | None | None | None | None | I | None | 0 | 9.14997E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.6129 | likely_pathogenic | 0.609 | pathogenic | -0.897 | Destabilizing | 0.997 | D | 0.674 | neutral | None | None | None | None | I |
| Q/C | 0.9394 | likely_pathogenic | 0.9373 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| Q/D | 0.9719 | likely_pathogenic | 0.9726 | pathogenic | -2.144 | Highly Destabilizing | 0.997 | D | 0.639 | neutral | None | None | None | None | I |
| Q/E | 0.3166 | likely_benign | 0.3126 | benign | -1.858 | Destabilizing | 0.992 | D | 0.601 | neutral | N | 0.491848464 | None | None | I |
| Q/F | 0.9717 | likely_pathogenic | 0.9714 | pathogenic | -0.428 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | I |
| Q/G | 0.8532 | likely_pathogenic | 0.8545 | pathogenic | -1.362 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | None | None | None | None | I |
| Q/H | 0.7454 | likely_pathogenic | 0.7471 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.789 | deleterious | N | 0.425724825 | None | None | I |
| Q/I | 0.8563 | likely_pathogenic | 0.8553 | pathogenic | 0.367 | Stabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | I |
| Q/K | 0.6177 | likely_pathogenic | 0.6187 | pathogenic | -0.548 | Destabilizing | 0.997 | D | 0.645 | neutral | N | 0.51014321 | None | None | I |
| Q/L | 0.5893 | likely_pathogenic | 0.5956 | pathogenic | 0.367 | Stabilizing | 0.997 | D | 0.733 | prob.delet. | N | 0.507216879 | None | None | I |
| Q/M | 0.7363 | likely_pathogenic | 0.7379 | pathogenic | 0.529 | Stabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | I |
| Q/N | 0.8175 | likely_pathogenic | 0.8267 | pathogenic | -1.564 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| Q/P | 0.9823 | likely_pathogenic | 0.9833 | pathogenic | -0.026 | Destabilizing | 0.999 | D | 0.791 | deleterious | N | 0.513362992 | None | None | I |
| Q/R | 0.6061 | likely_pathogenic | 0.6099 | pathogenic | -0.818 | Destabilizing | 0.997 | D | 0.64 | neutral | N | 0.459105581 | None | None | I |
| Q/S | 0.6391 | likely_pathogenic | 0.6471 | pathogenic | -1.693 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | I |
| Q/T | 0.6453 | likely_pathogenic | 0.6544 | pathogenic | -1.207 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | I |
| Q/V | 0.6996 | likely_pathogenic | 0.7017 | pathogenic | -0.026 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | I |
| Q/W | 0.9769 | likely_pathogenic | 0.9764 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| Q/Y | 0.941 | likely_pathogenic | 0.9401 | pathogenic | -0.138 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | I |
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.