Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9398 | 28417;28418;28419 | chr2:178710905;178710904;178710903 | chr2:179575632;179575631;179575630 |
| N2AB | 9081 | 27466;27467;27468 | chr2:178710905;178710904;178710903 | chr2:179575632;179575631;179575630 |
| N2A | 8154 | 24685;24686;24687 | chr2:178710905;178710904;178710903 | chr2:179575632;179575631;179575630 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 0.998 | None | 0.261 | 0.331 | 0.747271886432 | gnomAD-4.0.0 | 6.84471E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.657E-05 |
| F/I | rs1299415103  |
None | 0.064 | None | 0.115 | 0.21 | 0.344710718752 | 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 |
| F/I | rs1299415103 |
None | 0.064 | None | 0.115 | 0.21 | 0.344710718752 | gnomAD-4.0.0 | 2.56384E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79177E-06 | 0 | 0 |
| F/Y | None | None | 0.969 | None | 0.287 | 0.17 | 0.460616323599 | gnomAD-4.0.0 | 6.84471E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99868E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.2788 | likely_benign | 0.2963 | benign | -1.493 | Destabilizing | 0.737 | D | 0.255 | neutral | None | None | None | None | N |
| F/C | 0.2555 | likely_benign | 0.2458 | benign | -0.525 | Destabilizing | 0.998 | D | 0.261 | neutral | None | None | None | None | N |
| F/D | 0.5876 | likely_pathogenic | 0.6337 | pathogenic | 0.313 | Stabilizing | 0.932 | D | 0.368 | neutral | None | None | None | None | N |
| F/E | 0.6163 | likely_pathogenic | 0.6484 | pathogenic | 0.33 | Stabilizing | 0.872 | D | 0.321 | neutral | None | None | None | None | N |
| F/G | 0.5784 | likely_pathogenic | 0.6248 | pathogenic | -1.751 | Destabilizing | 0.932 | D | 0.323 | neutral | None | None | None | None | N |
| F/H | 0.346 | ambiguous | 0.378 | ambiguous | -0.083 | Destabilizing | 0.993 | D | 0.301 | neutral | None | None | None | None | N |
| F/I | 0.1087 | likely_benign | 0.1104 | benign | -0.779 | Destabilizing | 0.064 | N | 0.115 | neutral | None | None | None | None | N |
| F/K | 0.5351 | ambiguous | 0.5722 | pathogenic | -0.468 | Destabilizing | 0.773 | D | 0.325 | neutral | None | None | None | None | N |
| F/L | 0.5798 | likely_pathogenic | 0.6124 | pathogenic | -0.779 | Destabilizing | 0.316 | N | 0.159 | neutral | None | None | None | None | N |
| F/M | 0.3619 | ambiguous | 0.3776 | ambiguous | -0.548 | Destabilizing | 0.98 | D | 0.318 | neutral | None | None | None | None | N |
| F/N | 0.3929 | ambiguous | 0.4289 | ambiguous | -0.407 | Destabilizing | 0.98 | D | 0.361 | neutral | None | None | None | None | N |
| F/P | 0.9775 | likely_pathogenic | 0.9847 | pathogenic | -1.002 | Destabilizing | 0.993 | D | 0.342 | neutral | None | None | None | None | N |
| F/Q | 0.47 | ambiguous | 0.5138 | ambiguous | -0.494 | Destabilizing | 0.96 | D | 0.324 | neutral | None | None | None | None | N |
| F/R | 0.3571 | ambiguous | 0.394 | ambiguous | 0.134 | Stabilizing | 0.021 | N | 0.235 | neutral | None | None | None | None | N |
| F/S | 0.1842 | likely_benign | 0.191 | benign | -1.182 | Destabilizing | 0.719 | D | 0.305 | neutral | None | None | None | None | N |
| F/T | 0.2539 | likely_benign | 0.2625 | benign | -1.073 | Destabilizing | 0.083 | N | 0.233 | neutral | None | None | None | None | N |
| F/V | 0.0981 | likely_benign | 0.1003 | benign | -1.002 | Destabilizing | 0.028 | N | 0.185 | neutral | None | None | None | None | N |
| F/W | 0.4739 | ambiguous | 0.5419 | ambiguous | -0.267 | Destabilizing | 0.998 | D | 0.351 | neutral | None | None | None | None | N |
| F/Y | 0.1295 | likely_benign | 0.1417 | benign | -0.369 | Destabilizing | 0.969 | D | 0.287 | 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.