Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14423 | 43492;43493;43494 | chr2:178632739;178632738;178632737 | chr2:179497466;179497465;179497464 |
| N2AB | 12782 | 38569;38570;38571 | chr2:178632739;178632738;178632737 | chr2:179497466;179497465;179497464 |
| N2A | 11855 | 35788;35789;35790 | chr2:178632739;178632738;178632737 | chr2:179497466;179497465;179497464 |
| N2B | 5358 | 16297;16298;16299 | chr2:178632739;178632738;178632737 | chr2:179497466;179497465;179497464 |
| Novex-1 | 5483 | 16672;16673;16674 | chr2:178632739;178632738;178632737 | chr2:179497466;179497465;179497464 |
| Novex-2 | 5550 | 16873;16874;16875 | chr2:178632739;178632738;178632737 | chr2:179497466;179497465;179497464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.449 | 0.379 | 0.413761986042 | gnomAD-4.0.0 | 6.00357E-06 | None | None | None | None | N | None | 6.33794E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25165E-06 | 0 | 0 |
| D/G | rs1251576869  |
-0.767 | 1.0 | D | 0.72 | 0.581 | 0.584551062954 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| D/G | rs1251576869 |
-0.767 | 1.0 | D | 0.72 | 0.581 | 0.584551062954 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 0 | 0 |
| D/H | rs960364848 |
-0.717 | 1.0 | D | 0.747 | 0.43 | 0.610363733556 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| D/H | rs960364848 |
-0.717 | 1.0 | D | 0.747 | 0.43 | 0.610363733556 | gnomAD-4.0.0 | 1.59249E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8599E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5838 | likely_pathogenic | 0.5719 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.576819495 | None | None | N |
| D/C | 0.9696 | likely_pathogenic | 0.9599 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/E | 0.4913 | ambiguous | 0.4507 | ambiguous | -0.45 | Destabilizing | 1.0 | D | 0.449 | neutral | N | 0.495449359 | None | None | N |
| D/F | 0.9614 | likely_pathogenic | 0.9497 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/G | 0.4452 | ambiguous | 0.4084 | ambiguous | -0.813 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.548971222 | None | None | N |
| D/H | 0.8576 | likely_pathogenic | 0.8352 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.546773601 | None | None | N |
| D/I | 0.929 | likely_pathogenic | 0.9257 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/K | 0.888 | likely_pathogenic | 0.8725 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/L | 0.9071 | likely_pathogenic | 0.8897 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/M | 0.9544 | likely_pathogenic | 0.9417 | pathogenic | 0.386 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/N | 0.3681 | ambiguous | 0.3278 | benign | -0.351 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.543526279 | None | None | N |
| D/P | 0.9924 | likely_pathogenic | 0.9928 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/Q | 0.8357 | likely_pathogenic | 0.806 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.9102 | likely_pathogenic | 0.8916 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/S | 0.474 | ambiguous | 0.4504 | ambiguous | -0.493 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| D/T | 0.7698 | likely_pathogenic | 0.7475 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/V | 0.771 | likely_pathogenic | 0.7686 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.667581019 | None | None | N |
| D/W | 0.9905 | likely_pathogenic | 0.9882 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/Y | 0.7143 | likely_pathogenic | 0.6818 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.605099548 | 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.