Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16807 | 50644;50645;50646 | chr2:178611890;178611889;178611888 | chr2:179476617;179476616;179476615 |
| N2AB | 15166 | 45721;45722;45723 | chr2:178611890;178611889;178611888 | chr2:179476617;179476616;179476615 |
| N2A | 14239 | 42940;42941;42942 | chr2:178611890;178611889;178611888 | chr2:179476617;179476616;179476615 |
| N2B | 7742 | 23449;23450;23451 | chr2:178611890;178611889;178611888 | chr2:179476617;179476616;179476615 |
| Novex-1 | 7867 | 23824;23825;23826 | chr2:178611890;178611889;178611888 | chr2:179476617;179476616;179476615 |
| Novex-2 | 7934 | 24025;24026;24027 | chr2:178611890;178611889;178611888 | chr2:179476617;179476616;179476615 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | rs1294894885  |
-0.416 | 1.0 | N | 0.699 | 0.348 | 0.32580497728 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1294894885 |
-0.416 | 1.0 | N | 0.699 | 0.348 | 0.32580497728 | gnomAD-4.0.0 | 1.59335E-06 | None | None | None | None | N | None | 0 | 2.28927E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1157 | likely_benign | 0.1023 | benign | -1.08 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.461314576 | None | None | N |
| P/C | 0.7471 | likely_pathogenic | 0.6881 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| P/D | 0.7195 | likely_pathogenic | 0.6511 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/E | 0.4803 | ambiguous | 0.4168 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| P/F | 0.7608 | likely_pathogenic | 0.6934 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| P/G | 0.475 | ambiguous | 0.4289 | ambiguous | -1.312 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| P/H | 0.3999 | ambiguous | 0.331 | benign | -0.801 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.477716919 | None | None | N |
| P/I | 0.4812 | ambiguous | 0.4325 | ambiguous | -0.582 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| P/K | 0.4311 | ambiguous | 0.3581 | ambiguous | -0.886 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| P/L | 0.2248 | likely_benign | 0.1812 | benign | -0.582 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.47781719 | None | None | N |
| P/M | 0.4901 | ambiguous | 0.4375 | ambiguous | -0.446 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| P/N | 0.5487 | ambiguous | 0.494 | ambiguous | -0.599 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| P/Q | 0.2799 | likely_benign | 0.2375 | benign | -0.838 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/R | 0.327 | likely_benign | 0.2669 | benign | -0.3 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.476274742 | None | None | N |
| P/S | 0.2377 | likely_benign | 0.2002 | benign | -1.049 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.47337558 | None | None | N |
| P/T | 0.1761 | likely_benign | 0.151 | benign | -1.009 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.46476827 | None | None | N |
| P/V | 0.3498 | ambiguous | 0.3066 | benign | -0.712 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| P/W | 0.8746 | likely_pathogenic | 0.8368 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| P/Y | 0.7324 | likely_pathogenic | 0.6844 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.669 | 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.