Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24482 | 73669;73670;73671 | chr2:178572688;178572687;178572686 | chr2:179437415;179437414;179437413 |
| N2AB | 22841 | 68746;68747;68748 | chr2:178572688;178572687;178572686 | chr2:179437415;179437414;179437413 |
| N2A | 21914 | 65965;65966;65967 | chr2:178572688;178572687;178572686 | chr2:179437415;179437414;179437413 |
| N2B | 15417 | 46474;46475;46476 | chr2:178572688;178572687;178572686 | chr2:179437415;179437414;179437413 |
| Novex-1 | 15542 | 46849;46850;46851 | chr2:178572688;178572687;178572686 | chr2:179437415;179437414;179437413 |
| Novex-2 | 15609 | 47050;47051;47052 | chr2:178572688;178572687;178572686 | chr2:179437415;179437414;179437413 |
| 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 | rs1488357017  |
-1.295 | 0.999 | N | 0.626 | 0.385 | 0.263612267334 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/A | rs1488357017 |
-1.295 | 0.999 | N | 0.626 | 0.385 | 0.263612267334 | gnomAD-4.0.0 | 1.59204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| T/I | rs1708660987 |
None | 1.0 | N | 0.844 | 0.428 | 0.40318662893 | 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 |
| T/I | rs1708660987 |
None | 1.0 | N | 0.844 | 0.428 | 0.40318662893 | gnomAD-4.0.0 | 6.57652E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47098E-05 | 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 | 0.4517 | ambiguous | 0.4557 | ambiguous | -1.279 | Destabilizing | 0.999 | D | 0.626 | neutral | N | 0.492339845 | None | None | N |
| T/C | 0.8942 | likely_pathogenic | 0.8758 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| T/D | 0.9906 | likely_pathogenic | 0.9914 | pathogenic | -2.304 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/E | 0.9951 | likely_pathogenic | 0.9952 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/F | 0.9924 | likely_pathogenic | 0.9917 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| T/G | 0.8653 | likely_pathogenic | 0.8643 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/H | 0.9788 | likely_pathogenic | 0.9765 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| T/I | 0.968 | likely_pathogenic | 0.9652 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.49040614 | None | None | N |
| T/K | 0.9952 | likely_pathogenic | 0.9952 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/L | 0.8705 | likely_pathogenic | 0.857 | pathogenic | -0.017 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/M | 0.7545 | likely_pathogenic | 0.7495 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| T/N | 0.9081 | likely_pathogenic | 0.9053 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.476531847 | None | None | N |
| T/P | 0.9855 | likely_pathogenic | 0.9846 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.502776404 | None | None | N |
| T/Q | 0.9805 | likely_pathogenic | 0.9795 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| T/R | 0.9923 | likely_pathogenic | 0.992 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| T/S | 0.2599 | likely_benign | 0.2763 | benign | -1.487 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.460843502 | None | None | N |
| T/V | 0.8508 | likely_pathogenic | 0.8412 | pathogenic | -0.417 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| T/W | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/Y | 0.994 | likely_pathogenic | 0.993 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.871 | deleterious | 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.