Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24391 | 73396;73397;73398 | chr2:178572961;178572960;178572959 | chr2:179437688;179437687;179437686 |
| N2AB | 22750 | 68473;68474;68475 | chr2:178572961;178572960;178572959 | chr2:179437688;179437687;179437686 |
| N2A | 21823 | 65692;65693;65694 | chr2:178572961;178572960;178572959 | chr2:179437688;179437687;179437686 |
| N2B | 15326 | 46201;46202;46203 | chr2:178572961;178572960;178572959 | chr2:179437688;179437687;179437686 |
| Novex-1 | 15451 | 46576;46577;46578 | chr2:178572961;178572960;178572959 | chr2:179437688;179437687;179437686 |
| Novex-2 | 15518 | 46777;46778;46779 | chr2:178572961;178572960;178572959 | chr2:179437688;179437687;179437686 |
| 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/D | None | None | 0.999 | N | 0.571 | 0.294 | 0.414798848334 | gnomAD-4.0.0 | 6.84461E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99635E-07 | 0 | 0 |
| E/G | None | None | 1.0 | N | 0.591 | 0.528 | 0.532503582573 | gnomAD-4.0.0 | 1.36891E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53126E-05 | None | 0 | 0 | 0 | 0 | 1.65766E-05 |
| E/K | rs1479035090  |
0.05 | 0.999 | N | 0.671 | 0.348 | 0.423836183345 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| E/K | rs1479035090 |
0.05 | 0.999 | N | 0.671 | 0.348 | 0.423836183345 | gnomAD-4.0.0 | 6.84461E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87364E-05 | 0 | 0 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.648 | 0.353 | 0.371903410333 | gnomAD-4.0.0 | 2.05338E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1648 | likely_benign | 0.1547 | benign | -0.468 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.466138091 | None | None | N |
| E/C | 0.893 | likely_pathogenic | 0.8812 | pathogenic | 0.103 | Stabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| E/D | 0.2686 | likely_benign | 0.2262 | benign | -0.617 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.476928646 | None | None | N |
| E/F | 0.9076 | likely_pathogenic | 0.89 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| E/G | 0.2216 | likely_benign | 0.1957 | benign | -0.679 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.517999002 | None | None | N |
| E/H | 0.6703 | likely_pathogenic | 0.6232 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | N |
| E/I | 0.5059 | ambiguous | 0.4787 | ambiguous | 0.057 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| E/K | 0.1945 | likely_benign | 0.1774 | benign | 0.18 | Stabilizing | 0.999 | D | 0.671 | neutral | N | 0.474598015 | None | None | N |
| E/L | 0.6127 | likely_pathogenic | 0.5682 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| E/M | 0.5954 | likely_pathogenic | 0.5627 | ambiguous | 0.399 | Stabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| E/N | 0.4193 | ambiguous | 0.3777 | ambiguous | -0.021 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| E/P | 0.4132 | ambiguous | 0.3742 | ambiguous | -0.097 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| E/Q | 0.1653 | likely_benign | 0.154 | benign | -0.024 | Destabilizing | 1.0 | D | 0.648 | neutral | N | 0.466951466 | None | None | N |
| E/R | 0.3459 | ambiguous | 0.316 | benign | 0.231 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| E/S | 0.2795 | likely_benign | 0.2595 | benign | -0.201 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| E/T | 0.3282 | likely_benign | 0.2942 | benign | -0.039 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| E/V | 0.3092 | likely_benign | 0.2856 | benign | -0.097 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.497172495 | None | None | N |
| E/W | 0.9655 | likely_pathogenic | 0.9544 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| E/Y | 0.8379 | likely_pathogenic | 0.809 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.587 | 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.