Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17724 | 53395;53396;53397 | chr2:178607518;178607517;178607516 | chr2:179472245;179472244;179472243 |
| N2AB | 16083 | 48472;48473;48474 | chr2:178607518;178607517;178607516 | chr2:179472245;179472244;179472243 |
| N2A | 15156 | 45691;45692;45693 | chr2:178607518;178607517;178607516 | chr2:179472245;179472244;179472243 |
| N2B | 8659 | 26200;26201;26202 | chr2:178607518;178607517;178607516 | chr2:179472245;179472244;179472243 |
| Novex-1 | 8784 | 26575;26576;26577 | chr2:178607518;178607517;178607516 | chr2:179472245;179472244;179472243 |
| Novex-2 | 8851 | 26776;26777;26778 | chr2:178607518;178607517;178607516 | chr2:179472245;179472244;179472243 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | N | 0.715 | 0.397 | 0.306053231325 | gnomAD-4.0.0 | 1.36881E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79945E-06 | 0 | 0 |
| G/V | rs1385094780  |
-0.236 | 1.0 | N | 0.772 | 0.359 | 0.431602765429 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/V | rs1385094780 |
-0.236 | 1.0 | N | 0.772 | 0.359 | 0.431602765429 | gnomAD-4.0.0 | 6.84406E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99727E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3221 | likely_benign | 0.3581 | ambiguous | -0.153 | Destabilizing | 1.0 | D | 0.544 | neutral | N | 0.483360577 | None | None | N |
| G/C | 0.4772 | ambiguous | 0.5398 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/D | 0.2923 | likely_benign | 0.3357 | benign | -0.526 | Destabilizing | 0.921 | D | 0.548 | neutral | None | None | None | None | N |
| G/E | 0.3993 | ambiguous | 0.4591 | ambiguous | -0.689 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.440396446 | None | None | N |
| G/F | 0.8626 | likely_pathogenic | 0.8769 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/H | 0.737 | likely_pathogenic | 0.7818 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/I | 0.7281 | likely_pathogenic | 0.7921 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/K | 0.7605 | likely_pathogenic | 0.8016 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/L | 0.7574 | likely_pathogenic | 0.7895 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/M | 0.8049 | likely_pathogenic | 0.8404 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/N | 0.4521 | ambiguous | 0.5184 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/P | 0.8889 | likely_pathogenic | 0.9344 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/Q | 0.6325 | likely_pathogenic | 0.6799 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/R | 0.6626 | likely_pathogenic | 0.6993 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.510296462 | None | None | N |
| G/S | 0.2326 | likely_benign | 0.2704 | benign | -0.456 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| G/T | 0.515 | ambiguous | 0.6224 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/V | 0.5672 | likely_pathogenic | 0.6511 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.496617875 | None | None | N |
| G/W | 0.7456 | likely_pathogenic | 0.791 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7584 | likely_pathogenic | 0.7918 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | 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.