Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5402 | 16429;16430;16431 | chr2:178732972;178732971;178732970 | chr2:179597699;179597698;179597697 |
| N2AB | 5085 | 15478;15479;15480 | chr2:178732972;178732971;178732970 | chr2:179597699;179597698;179597697 |
| N2A | 4158 | 12697;12698;12699 | chr2:178732972;178732971;178732970 | chr2:179597699;179597698;179597697 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs886042411  |
-0.706 | 0.024 | N | 0.317 | 0.241 | 0.272205846399 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/T | rs886042411 |
-0.706 | 0.024 | N | 0.317 | 0.241 | 0.272205846399 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/T | rs886042411 |
-0.706 | 0.024 | N | 0.317 | 0.241 | 0.272205846399 | gnomAD-4.0.0 | 7.43721E-06 | None | None | None | None | N | None | 1.33479E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32395E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2311 | likely_benign | 0.2219 | benign | -0.966 | Destabilizing | 0.016 | N | 0.281 | neutral | None | None | None | None | N |
| R/C | 0.1871 | likely_benign | 0.1806 | benign | -0.908 | Destabilizing | 0.864 | D | 0.371 | neutral | None | None | None | None | N |
| R/D | 0.3758 | ambiguous | 0.3676 | ambiguous | 0.073 | Stabilizing | 0.038 | N | 0.332 | neutral | None | None | None | None | N |
| R/E | 0.2491 | likely_benign | 0.2358 | benign | 0.23 | Stabilizing | 0.016 | N | 0.263 | neutral | None | None | None | None | N |
| R/F | 0.4472 | ambiguous | 0.4331 | ambiguous | -0.699 | Destabilizing | 0.628 | D | 0.401 | neutral | None | None | None | None | N |
| R/G | 0.1294 | likely_benign | 0.1215 | benign | -1.29 | Destabilizing | 0.024 | N | 0.28 | neutral | N | 0.478247503 | None | None | N |
| R/H | 0.0953 | likely_benign | 0.0937 | benign | -1.543 | Destabilizing | 0.356 | N | 0.315 | neutral | None | None | None | None | N |
| R/I | 0.1932 | likely_benign | 0.1866 | benign | -0.086 | Destabilizing | 0.295 | N | 0.438 | neutral | N | 0.482882312 | None | None | N |
| R/K | 0.0766 | likely_benign | 0.0724 | benign | -0.65 | Destabilizing | None | N | 0.081 | neutral | N | 0.484918015 | None | None | N |
| R/L | 0.1801 | likely_benign | 0.1728 | benign | -0.086 | Destabilizing | 0.072 | N | 0.332 | neutral | None | None | None | None | N |
| R/M | 0.196 | likely_benign | 0.1859 | benign | -0.533 | Destabilizing | 0.628 | D | 0.354 | neutral | None | None | None | None | N |
| R/N | 0.2711 | likely_benign | 0.2546 | benign | -0.331 | Destabilizing | None | N | 0.084 | neutral | None | None | None | None | N |
| R/P | 0.5447 | ambiguous | 0.5443 | ambiguous | -0.36 | Destabilizing | 0.136 | N | 0.421 | neutral | None | None | None | None | N |
| R/Q | 0.0969 | likely_benign | 0.0941 | benign | -0.41 | Destabilizing | 0.038 | N | 0.263 | neutral | None | None | None | None | N |
| R/S | 0.2464 | likely_benign | 0.2305 | benign | -1.174 | Destabilizing | 0.012 | N | 0.3 | neutral | N | 0.473728052 | None | None | N |
| R/T | 0.1382 | likely_benign | 0.1326 | benign | -0.813 | Destabilizing | 0.024 | N | 0.317 | neutral | N | 0.491009387 | None | None | N |
| R/V | 0.2621 | likely_benign | 0.2547 | benign | -0.36 | Destabilizing | 0.072 | N | 0.429 | neutral | None | None | None | None | N |
| R/W | 0.1913 | likely_benign | 0.1882 | benign | -0.338 | Destabilizing | 0.864 | D | 0.417 | neutral | None | None | None | None | N |
| R/Y | 0.3052 | likely_benign | 0.2947 | benign | -0.077 | Destabilizing | 0.356 | N | 0.373 | 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.