Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2208 | 6847;6848;6849 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
| N2AB | 2208 | 6847;6848;6849 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
| N2A | 2208 | 6847;6848;6849 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
| N2B | 2162 | 6709;6710;6711 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
| Novex-1 | 2162 | 6709;6710;6711 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
| Novex-2 | 2162 | 6709;6710;6711 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
| Novex-3 | 2208 | 6847;6848;6849 | chr2:178775089;178775088;178775087 | chr2:179639816;179639815;179639814 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1186847832  |
None | 0.822 | N | 0.55 | 0.145 | 0.346768085243 | 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 |
| Y/C | rs1186847832 |
None | 0.822 | N | 0.55 | 0.145 | 0.346768085243 | gnomAD-4.0.0 | 5.07445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02446E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5313 | ambiguous | 0.551 | ambiguous | -2.549 | Highly Destabilizing | 0.104 | N | 0.461 | neutral | None | None | None | None | N |
| Y/C | 0.1227 | likely_benign | 0.1222 | benign | -1.149 | Destabilizing | 0.822 | D | 0.55 | neutral | N | 0.448786745 | None | None | N |
| Y/D | 0.4914 | ambiguous | 0.5245 | ambiguous | -1.138 | Destabilizing | 0.822 | D | 0.607 | neutral | N | 0.3912295 | None | None | N |
| Y/E | 0.5546 | ambiguous | 0.5752 | pathogenic | -1.037 | Destabilizing | 0.364 | N | 0.551 | neutral | None | None | None | None | N |
| Y/F | 0.0551 | likely_benign | 0.053 | benign | -1.09 | Destabilizing | None | N | 0.207 | neutral | N | 0.348086369 | None | None | N |
| Y/G | 0.5377 | ambiguous | 0.5575 | ambiguous | -2.878 | Highly Destabilizing | 0.364 | N | 0.563 | neutral | None | None | None | None | N |
| Y/H | 0.1285 | likely_benign | 0.132 | benign | -1.18 | Destabilizing | 0.822 | D | 0.497 | neutral | N | 0.318984817 | None | None | N |
| Y/I | 0.2834 | likely_benign | 0.2834 | benign | -1.537 | Destabilizing | 0.055 | N | 0.421 | neutral | None | None | None | None | N |
| Y/K | 0.4172 | ambiguous | 0.4335 | ambiguous | -1.229 | Destabilizing | 0.364 | N | 0.523 | neutral | None | None | None | None | N |
| Y/L | 0.2483 | likely_benign | 0.2548 | benign | -1.537 | Destabilizing | None | N | 0.282 | neutral | None | None | None | None | N |
| Y/M | 0.3325 | likely_benign | 0.3303 | benign | -1.198 | Destabilizing | 0.011 | N | 0.332 | neutral | None | None | None | None | N |
| Y/N | 0.1994 | likely_benign | 0.2104 | benign | -1.513 | Destabilizing | 0.822 | D | 0.595 | neutral | N | 0.448552247 | None | None | N |
| Y/P | 0.9881 | likely_pathogenic | 0.9887 | pathogenic | -1.873 | Destabilizing | 0.859 | D | 0.599 | neutral | None | None | None | None | N |
| Y/Q | 0.3172 | likely_benign | 0.3348 | benign | -1.479 | Destabilizing | 0.667 | D | 0.546 | neutral | None | None | None | None | N |
| Y/R | 0.2915 | likely_benign | 0.3115 | benign | -0.733 | Destabilizing | 0.667 | D | 0.596 | neutral | None | None | None | None | N |
| Y/S | 0.2573 | likely_benign | 0.276 | benign | -2.124 | Highly Destabilizing | 0.301 | N | 0.507 | neutral | N | 0.347057496 | None | None | N |
| Y/T | 0.4036 | ambiguous | 0.4152 | ambiguous | -1.928 | Destabilizing | 0.364 | N | 0.511 | neutral | None | None | None | None | N |
| Y/V | 0.2611 | likely_benign | 0.2623 | benign | -1.873 | Destabilizing | 0.025 | N | 0.371 | neutral | None | None | None | None | N |
| Y/W | 0.316 | likely_benign | 0.327 | benign | -0.551 | Destabilizing | 0.667 | D | 0.515 | 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.