Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14513 | 43762;43763;43764 | chr2:178632357;178632356;178632355 | chr2:179497084;179497083;179497082 |
| N2AB | 12872 | 38839;38840;38841 | chr2:178632357;178632356;178632355 | chr2:179497084;179497083;179497082 |
| N2A | 11945 | 36058;36059;36060 | chr2:178632357;178632356;178632355 | chr2:179497084;179497083;179497082 |
| N2B | 5448 | 16567;16568;16569 | chr2:178632357;178632356;178632355 | chr2:179497084;179497083;179497082 |
| Novex-1 | 5573 | 16942;16943;16944 | chr2:178632357;178632356;178632355 | chr2:179497084;179497083;179497082 |
| Novex-2 | 5640 | 17143;17144;17145 | chr2:178632357;178632356;178632355 | chr2:179497084;179497083;179497082 |
| 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/N | rs557216748  |
-0.148 | None | N | 0.105 | 0.106 | 0.126345400529 | gnomAD-2.1.1 | 3.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.81849E-04 | None | 0 | 0 | 0 |
| S/N | rs557216748 |
-0.148 | None | N | 0.105 | 0.106 | 0.126345400529 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.03734E-03 | 0 |
| S/N | rs557216748 |
-0.148 | None | N | 0.105 | 0.106 | 0.126345400529 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/N | rs557216748 |
-0.148 | None | N | 0.105 | 0.106 | 0.126345400529 | gnomAD-4.0.0 | 3.0546E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65618E-04 | 0 | 5.27485E-04 | 1.60917E-05 |
| S/T | rs557216748 |
None | None | N | 0.116 | 0.103 | 0.0884992946249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/T | rs557216748 |
None | None | N | 0.116 | 0.103 | 0.0884992946249 | gnomAD-4.0.0 | 1.24687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70224E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1309 | likely_benign | 0.1125 | benign | -0.493 | Destabilizing | 0.016 | N | 0.243 | neutral | None | None | None | None | N |
| S/C | 0.1973 | likely_benign | 0.1666 | benign | -0.328 | Destabilizing | 0.915 | D | 0.441 | neutral | N | 0.513031439 | None | None | N |
| S/D | 0.2134 | likely_benign | 0.1766 | benign | -0.045 | Destabilizing | 0.035 | N | 0.311 | neutral | None | None | None | None | N |
| S/E | 0.3916 | ambiguous | 0.3006 | benign | -0.101 | Destabilizing | 0.035 | N | 0.305 | neutral | None | None | None | None | N |
| S/F | 0.4128 | ambiguous | 0.3467 | ambiguous | -0.794 | Destabilizing | 0.555 | D | 0.517 | neutral | None | None | None | None | N |
| S/G | 0.1133 | likely_benign | 0.1041 | benign | -0.684 | Destabilizing | 0.027 | N | 0.325 | neutral | N | 0.497169306 | None | None | N |
| S/H | 0.3182 | likely_benign | 0.2536 | benign | -1.149 | Destabilizing | 0.38 | N | 0.454 | neutral | None | None | None | None | N |
| S/I | 0.2014 | likely_benign | 0.1613 | benign | -0.105 | Destabilizing | 0.117 | N | 0.513 | neutral | N | 0.48719593 | None | None | N |
| S/K | 0.466 | ambiguous | 0.354 | ambiguous | -0.682 | Destabilizing | 0.081 | N | 0.311 | neutral | None | None | None | None | N |
| S/L | 0.201 | likely_benign | 0.182 | benign | -0.105 | Destabilizing | 0.035 | N | 0.473 | neutral | None | None | None | None | N |
| S/M | 0.2661 | likely_benign | 0.2218 | benign | 0.17 | Stabilizing | 0.791 | D | 0.449 | neutral | None | None | None | None | N |
| S/N | 0.0781 | likely_benign | 0.0679 | benign | -0.437 | Destabilizing | None | N | 0.105 | neutral | N | 0.445965266 | None | None | N |
| S/P | 0.3752 | ambiguous | 0.3325 | benign | -0.202 | Destabilizing | 0.262 | N | 0.468 | neutral | None | None | None | None | N |
| S/Q | 0.4599 | ambiguous | 0.3613 | ambiguous | -0.669 | Destabilizing | 0.149 | N | 0.401 | neutral | None | None | None | None | N |
| S/R | 0.4078 | ambiguous | 0.3146 | benign | -0.462 | Destabilizing | 0.117 | N | 0.469 | neutral | N | 0.45884929 | None | None | N |
| S/T | 0.0789 | likely_benign | 0.0738 | benign | -0.523 | Destabilizing | None | N | 0.116 | neutral | N | 0.305955382 | None | None | N |
| S/V | 0.2745 | likely_benign | 0.222 | benign | -0.202 | Destabilizing | 0.081 | N | 0.489 | neutral | None | None | None | None | N |
| S/W | 0.4717 | ambiguous | 0.4106 | ambiguous | -0.768 | Destabilizing | 0.935 | D | 0.555 | neutral | None | None | None | None | N |
| S/Y | 0.2596 | likely_benign | 0.214 | benign | -0.522 | Destabilizing | 0.791 | D | 0.522 | 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.