Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5495 | 16708;16709;16710 | chr2:178732578;178732577;178732576 | chr2:179597305;179597304;179597303 |
| N2AB | 5178 | 15757;15758;15759 | chr2:178732578;178732577;178732576 | chr2:179597305;179597304;179597303 |
| N2A | 4251 | 12976;12977;12978 | chr2:178732578;178732577;178732576 | chr2:179597305;179597304;179597303 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.012 | N | 0.293 | 0.1 | 0.112648838833 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/N | rs1183828555  |
0.122 | None | N | 0.265 | 0.038 | 0.0401082797425 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/N | rs1183828555 |
0.122 | None | N | 0.265 | 0.038 | 0.0401082797425 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.799E-06 | 0 | 0 |
| S/T | rs1183828555 |
-0.013 | None | N | 0.105 | 0.047 | 0.0482279557977 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0805 | likely_benign | 0.0828 | benign | -0.329 | Destabilizing | None | N | 0.087 | neutral | None | None | None | None | N |
| S/C | 0.1282 | likely_benign | 0.1223 | benign | -0.274 | Destabilizing | 0.612 | D | 0.434 | neutral | N | 0.47354288 | None | None | N |
| S/D | 0.1353 | likely_benign | 0.171 | benign | 0.717 | Stabilizing | 0.038 | N | 0.332 | neutral | None | None | None | None | N |
| S/E | 0.2434 | likely_benign | 0.3148 | benign | 0.637 | Stabilizing | 0.038 | N | 0.307 | neutral | None | None | None | None | N |
| S/F | 0.1726 | likely_benign | 0.1974 | benign | -0.919 | Destabilizing | 0.214 | N | 0.499 | neutral | None | None | None | None | N |
| S/G | 0.0738 | likely_benign | 0.0736 | benign | -0.439 | Destabilizing | 0.012 | N | 0.293 | neutral | N | 0.445644764 | None | None | N |
| S/H | 0.157 | likely_benign | 0.186 | benign | -0.847 | Destabilizing | 0.214 | N | 0.437 | neutral | None | None | None | None | N |
| S/I | 0.1193 | likely_benign | 0.1382 | benign | -0.17 | Destabilizing | 0.029 | N | 0.487 | neutral | N | 0.456573833 | None | None | N |
| S/K | 0.2566 | likely_benign | 0.334 | benign | -0.186 | Destabilizing | 0.038 | N | 0.299 | neutral | None | None | None | None | N |
| S/L | 0.1106 | likely_benign | 0.1195 | benign | -0.17 | Destabilizing | 0.016 | N | 0.367 | neutral | None | None | None | None | N |
| S/M | 0.1814 | likely_benign | 0.1983 | benign | -0.102 | Destabilizing | 0.007 | N | 0.303 | neutral | None | None | None | None | N |
| S/N | 0.0617 | likely_benign | 0.0675 | benign | 0.032 | Stabilizing | None | N | 0.265 | neutral | N | 0.458227272 | None | None | N |
| S/P | 0.1296 | likely_benign | 0.1397 | benign | -0.195 | Destabilizing | 0.136 | N | 0.479 | neutral | None | None | None | None | N |
| S/Q | 0.2295 | likely_benign | 0.2827 | benign | -0.139 | Destabilizing | 0.214 | N | 0.423 | neutral | None | None | None | None | N |
| S/R | 0.2068 | likely_benign | 0.2683 | benign | -0.079 | Destabilizing | 0.055 | N | 0.473 | neutral | N | 0.361001795 | None | None | N |
| S/T | 0.0789 | likely_benign | 0.0824 | benign | -0.122 | Destabilizing | None | N | 0.105 | neutral | N | 0.462518371 | None | None | N |
| S/V | 0.1442 | likely_benign | 0.1608 | benign | -0.195 | Destabilizing | 0.016 | N | 0.401 | neutral | None | None | None | None | N |
| S/W | 0.2747 | likely_benign | 0.3245 | benign | -0.931 | Destabilizing | 0.864 | D | 0.547 | neutral | None | None | None | None | N |
| S/Y | 0.126 | likely_benign | 0.1502 | benign | -0.623 | Destabilizing | 0.356 | N | 0.506 | 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.