Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32612 | 98059;98060;98061 | chr2:178540332;178540331;178540330 | chr2:179405059;179405058;179405057 |
| N2AB | 30971 | 93136;93137;93138 | chr2:178540332;178540331;178540330 | chr2:179405059;179405058;179405057 |
| N2A | 30044 | 90355;90356;90357 | chr2:178540332;178540331;178540330 | chr2:179405059;179405058;179405057 |
| N2B | 23547 | 70864;70865;70866 | chr2:178540332;178540331;178540330 | chr2:179405059;179405058;179405057 |
| Novex-1 | 23672 | 71239;71240;71241 | chr2:178540332;178540331;178540330 | chr2:179405059;179405058;179405057 |
| Novex-2 | 23739 | 71440;71441;71442 | chr2:178540332;178540331;178540330 | chr2:179405059;179405058;179405057 |
| 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/A | rs1391570506  |
None | 0.543 | N | 0.211 | 0.139 | 0.202086224978 | 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/A | rs1391570506 |
None | 0.543 | N | 0.211 | 0.139 | 0.202086224978 | gnomAD-4.0.0 | 2.02984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40989E-06 | 0 | 0 |
| T/R | None | None | 0.998 | N | 0.601 | 0.391 | 0.690083970411 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1723 | likely_benign | 0.1655 | benign | -0.581 | Destabilizing | 0.543 | D | 0.211 | neutral | N | 0.492044349 | None | None | N |
| T/C | 0.4522 | ambiguous | 0.4452 | ambiguous | -0.748 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| T/D | 0.924 | likely_pathogenic | 0.9169 | pathogenic | -1.379 | Destabilizing | 0.998 | D | 0.537 | neutral | None | None | None | None | N |
| T/E | 0.8249 | likely_pathogenic | 0.8042 | pathogenic | -1.372 | Destabilizing | 0.998 | D | 0.539 | neutral | None | None | None | None | N |
| T/F | 0.5631 | ambiguous | 0.5547 | ambiguous | -1.097 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| T/G | 0.6588 | likely_pathogenic | 0.6308 | pathogenic | -0.774 | Destabilizing | 0.992 | D | 0.529 | neutral | None | None | None | None | N |
| T/H | 0.586 | likely_pathogenic | 0.5792 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| T/I | 0.321 | likely_benign | 0.319 | benign | -0.162 | Destabilizing | 0.998 | D | 0.586 | neutral | N | 0.430089026 | None | None | N |
| T/K | 0.4802 | ambiguous | 0.477 | ambiguous | -0.518 | Destabilizing | 0.997 | D | 0.547 | neutral | N | 0.491582989 | None | None | N |
| T/L | 0.282 | likely_benign | 0.2657 | benign | -0.162 | Destabilizing | 0.992 | D | 0.473 | neutral | None | None | None | None | N |
| T/M | 0.1388 | likely_benign | 0.1354 | benign | 0.206 | Stabilizing | 1.0 | D | 0.556 | neutral | None | None | None | None | N |
| T/N | 0.5198 | ambiguous | 0.49 | ambiguous | -0.774 | Destabilizing | 0.998 | D | 0.484 | neutral | None | None | None | None | N |
| T/P | 0.8831 | likely_pathogenic | 0.8774 | pathogenic | -0.273 | Destabilizing | 0.998 | D | 0.594 | neutral | N | 0.470888259 | None | None | N |
| T/Q | 0.5293 | ambiguous | 0.5122 | ambiguous | -1.094 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| T/R | 0.446 | ambiguous | 0.4406 | ambiguous | -0.274 | Destabilizing | 0.998 | D | 0.601 | neutral | N | 0.517806798 | None | None | N |
| T/S | 0.2405 | likely_benign | 0.2298 | benign | -0.825 | Destabilizing | 0.775 | D | 0.259 | neutral | N | 0.488620042 | None | None | N |
| T/V | 0.214 | likely_benign | 0.2182 | benign | -0.273 | Destabilizing | 0.992 | D | 0.422 | neutral | None | None | None | None | N |
| T/W | 0.838 | likely_pathogenic | 0.8451 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| T/Y | 0.5814 | likely_pathogenic | 0.5578 | ambiguous | -0.743 | Destabilizing | 1.0 | D | 0.651 | 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.