Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25443 | 76552;76553;76554 | chr2:178569805;178569804;178569803 | chr2:179434532;179434531;179434530 |
| N2AB | 23802 | 71629;71630;71631 | chr2:178569805;178569804;178569803 | chr2:179434532;179434531;179434530 |
| N2A | 22875 | 68848;68849;68850 | chr2:178569805;178569804;178569803 | chr2:179434532;179434531;179434530 |
| N2B | 16378 | 49357;49358;49359 | chr2:178569805;178569804;178569803 | chr2:179434532;179434531;179434530 |
| Novex-1 | 16503 | 49732;49733;49734 | chr2:178569805;178569804;178569803 | chr2:179434532;179434531;179434530 |
| Novex-2 | 16570 | 49933;49934;49935 | chr2:178569805;178569804;178569803 | chr2:179434532;179434531;179434530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs879171592  |
-2.867 | 1.0 | D | 0.749 | 0.468 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs879171592 |
-2.867 | 1.0 | D | 0.749 | 0.468 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs879171592 |
-2.867 | 1.0 | D | 0.749 | 0.468 | None | gnomAD-4.0.0 | 1.31525E-05 | None | None | None | None | N | None | 4.82625E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1707474479 |
None | 1.0 | N | 0.765 | 0.35 | 0.290222751274 | 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 |
| E/Q | rs1707474479 |
None | 1.0 | N | 0.765 | 0.35 | 0.290222751274 | gnomAD-4.0.0 | 6.57825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47106E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8243 | likely_pathogenic | 0.8409 | pathogenic | -2.34 | Highly Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.541445628 | None | None | N |
| E/C | 0.9866 | likely_pathogenic | 0.988 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/D | 0.8619 | likely_pathogenic | 0.8916 | pathogenic | -1.745 | Destabilizing | 0.999 | D | 0.662 | neutral | N | 0.490842619 | None | None | N |
| E/F | 0.9886 | likely_pathogenic | 0.992 | pathogenic | -1.977 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/G | 0.8498 | likely_pathogenic | 0.8645 | pathogenic | -2.685 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.525115799 | None | None | N |
| E/H | 0.9559 | likely_pathogenic | 0.9664 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/I | 0.9716 | likely_pathogenic | 0.9723 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| E/K | 0.8456 | likely_pathogenic | 0.8688 | pathogenic | -2.633 | Highly Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.508084274 | None | None | N |
| E/L | 0.9518 | likely_pathogenic | 0.9584 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/M | 0.9388 | likely_pathogenic | 0.9427 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/N | 0.957 | likely_pathogenic | 0.9675 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| E/Q | 0.4212 | ambiguous | 0.4483 | ambiguous | -2.331 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.467418765 | None | None | N |
| E/R | 0.8988 | likely_pathogenic | 0.9175 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| E/S | 0.8447 | likely_pathogenic | 0.8687 | pathogenic | -3.358 | Highly Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| E/T | 0.9407 | likely_pathogenic | 0.9472 | pathogenic | -3.04 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/V | 0.9206 | likely_pathogenic | 0.9235 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.502705904 | None | None | N |
| E/W | 0.9936 | likely_pathogenic | 0.9953 | pathogenic | -2.074 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/Y | 0.9747 | likely_pathogenic | 0.9826 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.791 | 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.