Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14383 | 43372;43373;43374 | chr2:178632984;178632983;178632982 | chr2:179497711;179497710;179497709 |
| N2AB | 12742 | 38449;38450;38451 | chr2:178632984;178632983;178632982 | chr2:179497711;179497710;179497709 |
| N2A | 11815 | 35668;35669;35670 | chr2:178632984;178632983;178632982 | chr2:179497711;179497710;179497709 |
| N2B | 5318 | 16177;16178;16179 | chr2:178632984;178632983;178632982 | chr2:179497711;179497710;179497709 |
| Novex-1 | 5443 | 16552;16553;16554 | chr2:178632984;178632983;178632982 | chr2:179497711;179497710;179497709 |
| Novex-2 | 5510 | 16753;16754;16755 | chr2:178632984;178632983;178632982 | chr2:179497711;179497710;179497709 |
| 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/D | rs765835336  |
0.044 | None | N | 0.073 | 0.084 | 0.136095386433 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs765835336 |
0.044 | None | N | 0.073 | 0.084 | 0.136095386433 | gnomAD-4.0.0 | 1.59254E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| G/R | None | None | 0.026 | N | 0.469 | 0.053 | 0.324986149311 | gnomAD-4.0.0 | 1.59253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8831E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0992 | likely_benign | 0.088 | benign | -0.243 | Destabilizing | 0.002 | N | 0.213 | neutral | N | 0.370488532 | None | None | N |
| G/C | 0.2177 | likely_benign | 0.2013 | benign | -0.895 | Destabilizing | 0.69 | D | 0.383 | neutral | N | 0.437077687 | None | None | N |
| G/D | 0.0594 | likely_benign | 0.0543 | benign | -0.708 | Destabilizing | None | N | 0.073 | neutral | N | 0.296526421 | None | None | N |
| G/E | 0.0997 | likely_benign | 0.0922 | benign | -0.858 | Destabilizing | 0.003 | N | 0.265 | neutral | None | None | None | None | N |
| G/F | 0.4881 | ambiguous | 0.423 | ambiguous | -0.919 | Destabilizing | 0.439 | N | 0.517 | neutral | None | None | None | None | N |
| G/H | 0.2056 | likely_benign | 0.1789 | benign | -0.468 | Destabilizing | 0.112 | N | 0.435 | neutral | None | None | None | None | N |
| G/I | 0.2345 | likely_benign | 0.2063 | benign | -0.349 | Destabilizing | 0.204 | N | 0.579 | neutral | None | None | None | None | N |
| G/K | 0.2857 | likely_benign | 0.2407 | benign | -0.913 | Destabilizing | 0.007 | N | 0.26 | neutral | None | None | None | None | N |
| G/L | 0.3037 | likely_benign | 0.2656 | benign | -0.349 | Destabilizing | 0.035 | N | 0.429 | neutral | None | None | None | None | N |
| G/M | 0.4508 | ambiguous | 0.3909 | ambiguous | -0.511 | Destabilizing | 0.439 | N | 0.411 | neutral | None | None | None | None | N |
| G/N | 0.1213 | likely_benign | 0.1017 | benign | -0.555 | Destabilizing | None | N | 0.063 | neutral | None | None | None | None | N |
| G/P | 0.3956 | ambiguous | 0.3365 | benign | -0.281 | Destabilizing | None | N | 0.056 | neutral | None | None | None | None | N |
| G/Q | 0.2065 | likely_benign | 0.1824 | benign | -0.821 | Destabilizing | 0.035 | N | 0.449 | neutral | None | None | None | None | N |
| G/R | 0.2161 | likely_benign | 0.1906 | benign | -0.449 | Destabilizing | 0.026 | N | 0.469 | neutral | N | 0.422097011 | None | None | N |
| G/S | 0.0775 | likely_benign | 0.0694 | benign | -0.681 | Destabilizing | None | N | 0.056 | neutral | N | 0.336340904 | None | None | N |
| G/T | 0.1349 | likely_benign | 0.1196 | benign | -0.761 | Destabilizing | 0.007 | N | 0.221 | neutral | None | None | None | None | N |
| G/V | 0.1589 | likely_benign | 0.1404 | benign | -0.281 | Destabilizing | 0.052 | N | 0.499 | neutral | N | 0.435837371 | None | None | N |
| G/W | 0.3681 | ambiguous | 0.3504 | ambiguous | -1.099 | Destabilizing | 0.747 | D | 0.477 | neutral | None | None | None | None | N |
| G/Y | 0.2808 | likely_benign | 0.2487 | benign | -0.747 | Destabilizing | 0.439 | N | 0.517 | 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.