Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8205 | 24838;24839;24840 | chr2:178718493;178718492;178718491 | chr2:179583220;179583219;179583218 |
| N2AB | 7888 | 23887;23888;23889 | chr2:178718493;178718492;178718491 | chr2:179583220;179583219;179583218 |
| N2A | 6961 | 21106;21107;21108 | chr2:178718493;178718492;178718491 | chr2:179583220;179583219;179583218 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs780500830  |
-1.381 | None | N | 0.332 | 0.231 | 0.35139820857 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/K | rs780500830 |
-1.381 | None | N | 0.332 | 0.231 | 0.35139820857 | 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 |
| I/V | rs747306219 |
-1.14 | 0.001 | N | 0.24 | 0.032 | 0.198526703765 | 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 |
| I/V | rs747306219 |
-1.14 | 0.001 | N | 0.24 | 0.032 | 0.198526703765 | 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 |
| I/V | rs747306219 |
-1.14 | 0.001 | N | 0.24 | 0.032 | 0.198526703765 | gnomAD-4.0.0 | 3.09865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23821E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2358 | likely_benign | 0.2325 | benign | -2.039 | Highly Destabilizing | None | N | 0.227 | neutral | None | None | None | None | N |
| I/C | 0.4936 | ambiguous | 0.4788 | ambiguous | -1.351 | Destabilizing | 0.245 | N | 0.523 | neutral | None | None | None | None | N |
| I/D | 0.494 | ambiguous | 0.4925 | ambiguous | -1.678 | Destabilizing | 0.018 | N | 0.549 | neutral | None | None | None | None | N |
| I/E | 0.2355 | likely_benign | 0.2465 | benign | -1.518 | Destabilizing | 0.009 | N | 0.525 | neutral | None | None | None | None | N |
| I/F | 0.0872 | likely_benign | 0.088 | benign | -1.192 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| I/G | 0.4101 | ambiguous | 0.4071 | ambiguous | -2.515 | Highly Destabilizing | 0.004 | N | 0.507 | neutral | None | None | None | None | N |
| I/H | 0.2144 | likely_benign | 0.2243 | benign | -1.876 | Destabilizing | 0.138 | N | 0.617 | neutral | None | None | None | None | N |
| I/K | 0.0993 | likely_benign | 0.1092 | benign | -1.303 | Destabilizing | None | N | 0.332 | neutral | N | 0.362855596 | None | None | N |
| I/L | 0.0621 | likely_benign | 0.0605 | benign | -0.71 | Destabilizing | None | N | 0.151 | neutral | N | 0.376936827 | None | None | N |
| I/M | 0.0494 | likely_benign | 0.0528 | benign | -0.702 | Destabilizing | None | N | 0.16 | neutral | N | 0.442663173 | None | None | N |
| I/N | 0.1492 | likely_benign | 0.15 | benign | -1.434 | Destabilizing | 0.018 | N | 0.556 | neutral | None | None | None | None | N |
| I/P | 0.9155 | likely_pathogenic | 0.9084 | pathogenic | -1.129 | Destabilizing | 0.085 | N | 0.578 | neutral | None | None | None | None | N |
| I/Q | 0.134 | likely_benign | 0.1425 | benign | -1.383 | Destabilizing | 0.018 | N | 0.555 | neutral | None | None | None | None | N |
| I/R | 0.0788 | likely_benign | 0.0852 | benign | -1.014 | Destabilizing | 0.007 | N | 0.533 | neutral | N | 0.423904054 | None | None | N |
| I/S | 0.1678 | likely_benign | 0.1772 | benign | -2.194 | Highly Destabilizing | 0.004 | N | 0.437 | neutral | None | None | None | None | N |
| I/T | 0.1623 | likely_benign | 0.1669 | benign | -1.896 | Destabilizing | 0.006 | N | 0.425 | neutral | N | 0.398429607 | None | None | N |
| I/V | 0.0853 | likely_benign | 0.0828 | benign | -1.129 | Destabilizing | 0.001 | N | 0.24 | neutral | N | 0.445818122 | None | None | N |
| I/W | 0.3719 | ambiguous | 0.3745 | ambiguous | -1.458 | Destabilizing | 0.245 | N | 0.595 | neutral | None | None | None | None | N |
| I/Y | 0.2022 | likely_benign | 0.2153 | benign | -1.153 | Destabilizing | None | N | 0.227 | 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.