Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27376 | 82351;82352;82353 | chr2:178564006;178564005;178564004 | chr2:179428733;179428732;179428731 |
| N2AB | 25735 | 77428;77429;77430 | chr2:178564006;178564005;178564004 | chr2:179428733;179428732;179428731 |
| N2A | 24808 | 74647;74648;74649 | chr2:178564006;178564005;178564004 | chr2:179428733;179428732;179428731 |
| N2B | 18311 | 55156;55157;55158 | chr2:178564006;178564005;178564004 | chr2:179428733;179428732;179428731 |
| Novex-1 | 18436 | 55531;55532;55533 | chr2:178564006;178564005;178564004 | chr2:179428733;179428732;179428731 |
| Novex-2 | 18503 | 55732;55733;55734 | chr2:178564006;178564005;178564004 | chr2:179428733;179428732;179428731 |
| 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 | rs1704684984  |
None | 1.0 | N | 0.761 | 0.41 | 0.564725595184 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs1704684984 |
None | 1.0 | N | 0.761 | 0.41 | 0.564725595184 | gnomAD-4.0.0 | 2.47897E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1844 | likely_benign | 0.1549 | benign | -0.483 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.495664785 | None | None | N |
| P/C | 0.6171 | likely_pathogenic | 0.5658 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/D | 0.5087 | ambiguous | 0.4423 | ambiguous | -0.211 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/E | 0.3696 | ambiguous | 0.315 | benign | -0.303 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/F | 0.6087 | likely_pathogenic | 0.5584 | ambiguous | -0.594 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| P/G | 0.5118 | ambiguous | 0.4508 | ambiguous | -0.614 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/H | 0.3374 | likely_benign | 0.2912 | benign | -0.054 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.523265694 | None | None | N |
| P/I | 0.4321 | ambiguous | 0.3713 | ambiguous | -0.279 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/K | 0.4423 | ambiguous | 0.3776 | ambiguous | -0.498 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/L | 0.2048 | likely_benign | 0.1748 | benign | -0.279 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.516167987 | None | None | N |
| P/M | 0.4243 | ambiguous | 0.3683 | ambiguous | -0.543 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| P/N | 0.4659 | ambiguous | 0.4042 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/Q | 0.2925 | likely_benign | 0.2438 | benign | -0.527 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/R | 0.3356 | likely_benign | 0.2881 | benign | -0.01 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.522758715 | None | None | N |
| P/S | 0.2643 | likely_benign | 0.2283 | benign | -0.712 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.48168836 | None | None | N |
| P/T | 0.2048 | likely_benign | 0.1737 | benign | -0.701 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.502755129 | None | None | N |
| P/V | 0.3352 | likely_benign | 0.2842 | benign | -0.314 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| P/W | 0.8006 | likely_pathogenic | 0.7642 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| P/Y | 0.6032 | likely_pathogenic | 0.535 | ambiguous | -0.388 | Destabilizing | 1.0 | D | 0.705 | prob.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.