Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8195 | 24808;24809;24810 | chr2:178718523;178718522;178718521 | chr2:179583250;179583249;179583248 |
| N2AB | 7878 | 23857;23858;23859 | chr2:178718523;178718522;178718521 | chr2:179583250;179583249;179583248 |
| N2A | 6951 | 21076;21077;21078 | chr2:178718523;178718522;178718521 | chr2:179583250;179583249;179583248 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs773225442  |
-0.878 | None | N | 0.089 | 0.08 | 0.104622674875 | 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 |
| T/A | rs773225442 |
-0.878 | None | N | 0.089 | 0.08 | 0.104622674875 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8585E-06 | 0 | 0 |
| T/I | rs769875081 |
-0.056 | None | N | 0.249 | 0.194 | 0.213573922156 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| T/I | rs769875081 |
-0.056 | None | N | 0.249 | 0.194 | 0.213573922156 | gnomAD-4.0.0 | 6.84241E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99491E-07 | 0 | 0 |
| T/S | rs769875081 |
None | None | N | 0.101 | 0.082 | 0.0762999501168 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs769875081 |
None | None | N | 0.101 | 0.082 | 0.0762999501168 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0678 | likely_benign | 0.0641 | benign | -0.567 | Destabilizing | None | N | 0.089 | neutral | N | 0.506064944 | None | None | N |
| T/C | 0.3209 | likely_benign | 0.2658 | benign | -0.431 | Destabilizing | 0.356 | N | 0.306 | neutral | None | None | None | None | N |
| T/D | 0.3169 | likely_benign | 0.2923 | benign | 0.481 | Stabilizing | 0.038 | N | 0.322 | neutral | None | None | None | None | N |
| T/E | 0.223 | likely_benign | 0.213 | benign | 0.47 | Stabilizing | 0.038 | N | 0.331 | neutral | None | None | None | None | N |
| T/F | 0.1728 | likely_benign | 0.1516 | benign | -0.819 | Destabilizing | 0.214 | N | 0.381 | neutral | None | None | None | None | N |
| T/G | 0.191 | likely_benign | 0.1723 | benign | -0.781 | Destabilizing | 0.016 | N | 0.319 | neutral | None | None | None | None | N |
| T/H | 0.1873 | likely_benign | 0.1765 | benign | -0.999 | Destabilizing | 0.356 | N | 0.347 | neutral | None | None | None | None | N |
| T/I | 0.1083 | likely_benign | 0.1004 | benign | -0.103 | Destabilizing | None | N | 0.249 | neutral | N | 0.492404734 | None | None | N |
| T/K | 0.1361 | likely_benign | 0.1351 | benign | -0.324 | Destabilizing | 0.038 | N | 0.332 | neutral | None | None | None | None | N |
| T/L | 0.0822 | likely_benign | 0.0762 | benign | -0.103 | Destabilizing | 0.006 | N | 0.325 | neutral | None | None | None | None | N |
| T/M | 0.0808 | likely_benign | 0.0769 | benign | -0.081 | Destabilizing | 0.214 | N | 0.328 | neutral | None | None | None | None | N |
| T/N | 0.1154 | likely_benign | 0.1086 | benign | -0.295 | Destabilizing | None | N | 0.176 | neutral | N | 0.504268018 | None | None | N |
| T/P | 0.5389 | ambiguous | 0.5033 | ambiguous | -0.226 | Destabilizing | 0.171 | N | 0.389 | neutral | D | 0.523132742 | None | None | N |
| T/Q | 0.1641 | likely_benign | 0.162 | benign | -0.393 | Destabilizing | 0.214 | N | 0.361 | neutral | None | None | None | None | N |
| T/R | 0.1041 | likely_benign | 0.1024 | benign | -0.176 | Destabilizing | 0.214 | N | 0.377 | neutral | None | None | None | None | N |
| T/S | 0.0806 | likely_benign | 0.0757 | benign | -0.608 | Destabilizing | None | N | 0.101 | neutral | N | 0.485457598 | None | None | N |
| T/V | 0.1018 | likely_benign | 0.0937 | benign | -0.226 | Destabilizing | None | N | 0.09 | neutral | None | None | None | None | N |
| T/W | 0.4318 | ambiguous | 0.4005 | ambiguous | -0.787 | Destabilizing | 0.864 | D | 0.405 | neutral | None | None | None | None | N |
| T/Y | 0.2132 | likely_benign | 0.1898 | benign | -0.502 | Destabilizing | 0.356 | N | 0.379 | 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.