Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35024 | 105295;105296;105297 | chr2:178531545;178531544;178531543 | chr2:179396272;179396271;179396270 |
| N2AB | 33383 | 100372;100373;100374 | chr2:178531545;178531544;178531543 | chr2:179396272;179396271;179396270 |
| N2A | 32456 | 97591;97592;97593 | chr2:178531545;178531544;178531543 | chr2:179396272;179396271;179396270 |
| N2B | 25959 | 78100;78101;78102 | chr2:178531545;178531544;178531543 | chr2:179396272;179396271;179396270 |
| Novex-1 | 26084 | 78475;78476;78477 | chr2:178531545;178531544;178531543 | chr2:179396272;179396271;179396270 |
| Novex-2 | 26151 | 78676;78677;78678 | chr2:178531545;178531544;178531543 | chr2:179396272;179396271;179396270 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs764381474  |
-0.309 | 0.997 | N | 0.471 | 0.374 | 0.379020345274 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/A | rs764381474 |
-0.309 | 0.997 | N | 0.471 | 0.374 | 0.379020345274 | gnomAD-4.0.0 | 2.7366E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63736E-05 | 0 |
| S/T | None | None | 0.999 | N | 0.512 | 0.275 | 0.338110398507 | gnomAD-4.0.0 | 6.84149E-07 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1415 | likely_benign | 0.153 | benign | -0.489 | Destabilizing | 0.997 | D | 0.471 | neutral | N | 0.493645728 | None | None | N |
| S/C | 0.3305 | likely_benign | 0.36 | ambiguous | -0.387 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.51829735 | None | None | N |
| S/D | 0.9123 | likely_pathogenic | 0.9377 | pathogenic | -0.212 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| S/E | 0.9016 | likely_pathogenic | 0.9276 | pathogenic | -0.252 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| S/F | 0.6033 | likely_pathogenic | 0.7055 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.524594776 | None | None | N |
| S/G | 0.3167 | likely_benign | 0.3671 | ambiguous | -0.704 | Destabilizing | 0.999 | D | 0.546 | neutral | None | None | None | None | N |
| S/H | 0.8209 | likely_pathogenic | 0.853 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| S/I | 0.5595 | ambiguous | 0.6599 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/K | 0.9718 | likely_pathogenic | 0.9819 | pathogenic | -0.807 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| S/L | 0.3213 | likely_benign | 0.4069 | ambiguous | -0.036 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| S/M | 0.4578 | ambiguous | 0.5303 | ambiguous | 0.173 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/N | 0.5522 | ambiguous | 0.6499 | pathogenic | -0.61 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | N |
| S/P | 0.9725 | likely_pathogenic | 0.9849 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.517790371 | None | None | N |
| S/Q | 0.8758 | likely_pathogenic | 0.8976 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| S/R | 0.9451 | likely_pathogenic | 0.9623 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| S/T | 0.1409 | likely_benign | 0.1849 | benign | -0.636 | Destabilizing | 0.999 | D | 0.512 | neutral | N | 0.499866903 | None | None | N |
| S/V | 0.4512 | ambiguous | 0.5497 | ambiguous | -0.153 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/W | 0.7802 | likely_pathogenic | 0.8204 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| S/Y | 0.631 | likely_pathogenic | 0.6931 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.4885833 | 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.