Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34261 | 103006;103007;103008 | chr2:178533834;178533833;178533832 | chr2:179398561;179398560;179398559 |
| N2AB | 32620 | 98083;98084;98085 | chr2:178533834;178533833;178533832 | chr2:179398561;179398560;179398559 |
| N2A | 31693 | 95302;95303;95304 | chr2:178533834;178533833;178533832 | chr2:179398561;179398560;179398559 |
| N2B | 25196 | 75811;75812;75813 | chr2:178533834;178533833;178533832 | chr2:179398561;179398560;179398559 |
| Novex-1 | 25321 | 76186;76187;76188 | chr2:178533834;178533833;178533832 | chr2:179398561;179398560;179398559 |
| Novex-2 | 25388 | 76387;76388;76389 | chr2:178533834;178533833;178533832 | chr2:179398561;179398560;179398559 |
| 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 | 1.0 | N | 0.635 | 0.445 | 0.256283259241 | gnomAD-4.0.0 | 6.84159E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99408E-07 | 0 | 0 |
| T/N | rs985229219  |
-0.146 | 1.0 | N | 0.675 | 0.41 | 0.262662153117 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| T/N | rs985229219 |
-0.146 | 1.0 | N | 0.675 | 0.41 | 0.262662153117 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs985229219 |
-0.146 | 1.0 | N | 0.675 | 0.41 | 0.262662153117 | gnomAD-4.0.0 | 1.3632E-05 | None | None | None | None | N | None | 0 | 1.66694E-05 | None | 0 | 0 | None | 0 | 0 | 1.77984E-05 | 0 | 0 |
| T/P | rs759169479 |
-0.012 | 1.0 | N | 0.623 | 0.511 | None | gnomAD-4.0.0 | 1.09923E-04 | None | None | None | None | N | None | 0 | 6.87916E-05 | None | 0 | 5.55216E-05 | None | 1.00695E-03 | 2.4108E-04 | 2.00101E-05 | 0 | 9.08871E-05 |
| T/S | None | None | 0.999 | N | 0.511 | 0.351 | 0.197625483188 | gnomAD-4.0.0 | 6.84159E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99408E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4224 | ambiguous | 0.4767 | ambiguous | -0.626 | Destabilizing | 0.999 | D | 0.485 | neutral | N | 0.445927246 | None | None | N |
| T/C | 0.8349 | likely_pathogenic | 0.8887 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | N |
| T/D | 0.9093 | likely_pathogenic | 0.9353 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| T/E | 0.8797 | likely_pathogenic | 0.8867 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| T/F | 0.7829 | likely_pathogenic | 0.8249 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| T/G | 0.797 | likely_pathogenic | 0.8648 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| T/H | 0.7666 | likely_pathogenic | 0.7949 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| T/I | 0.6072 | likely_pathogenic | 0.6111 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.473569579 | None | None | N |
| T/K | 0.8013 | likely_pathogenic | 0.7853 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| T/L | 0.3835 | ambiguous | 0.4257 | ambiguous | -0.111 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| T/M | 0.3343 | likely_benign | 0.374 | ambiguous | 0.035 | Stabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| T/N | 0.5763 | likely_pathogenic | 0.6579 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.453435664 | None | None | N |
| T/P | 0.6433 | likely_pathogenic | 0.6736 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.464791969 | None | None | N |
| T/Q | 0.7583 | likely_pathogenic | 0.7641 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| T/R | 0.7381 | likely_pathogenic | 0.7408 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| T/S | 0.3888 | ambiguous | 0.4655 | ambiguous | -0.721 | Destabilizing | 0.999 | D | 0.511 | neutral | N | 0.495542361 | None | None | N |
| T/V | 0.4868 | ambiguous | 0.4953 | ambiguous | -0.25 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| T/W | 0.9451 | likely_pathogenic | 0.9588 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/Y | 0.8355 | likely_pathogenic | 0.8636 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.667 | 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.