Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15951 | 48076;48077;48078 | chr2:178617144;178617143;178617142 | chr2:179481871;179481870;179481869 |
| N2AB | 14310 | 43153;43154;43155 | chr2:178617144;178617143;178617142 | chr2:179481871;179481870;179481869 |
| N2A | 13383 | 40372;40373;40374 | chr2:178617144;178617143;178617142 | chr2:179481871;179481870;179481869 |
| N2B | 6886 | 20881;20882;20883 | chr2:178617144;178617143;178617142 | chr2:179481871;179481870;179481869 |
| Novex-1 | 7011 | 21256;21257;21258 | chr2:178617144;178617143;178617142 | chr2:179481871;179481870;179481869 |
| Novex-2 | 7078 | 21457;21458;21459 | chr2:178617144;178617143;178617142 | chr2:179481871;179481870;179481869 |
| 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/R | None | None | 1.0 | D | 0.879 | 0.474 | 0.45063746488 | gnomAD-4.0.0 | 1.37309E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.014E-07 | 0 | 1.66251E-05 |
| P/S | None | None | 1.0 | N | 0.797 | 0.337 | 0.225902525712 | gnomAD-4.0.0 | 3.43274E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60568E-06 | 1.17049E-05 | 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 | 0.1499 | likely_benign | 0.1368 | benign | -0.915 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.468387208 | None | None | N |
| P/C | 0.6013 | likely_pathogenic | 0.5482 | ambiguous | -0.801 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/D | 0.6723 | likely_pathogenic | 0.5994 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/E | 0.4772 | ambiguous | 0.4052 | ambiguous | -0.51 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/F | 0.5707 | likely_pathogenic | 0.5118 | ambiguous | -0.782 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/G | 0.5219 | ambiguous | 0.4684 | ambiguous | -1.133 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/H | 0.3528 | ambiguous | 0.3007 | benign | -0.476 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.611443743 | None | None | N |
| P/I | 0.3857 | ambiguous | 0.3282 | benign | -0.459 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/K | 0.5255 | ambiguous | 0.4554 | ambiguous | -0.771 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/L | 0.2156 | likely_benign | 0.1826 | benign | -0.459 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.508485082 | None | None | N |
| P/M | 0.4725 | ambiguous | 0.4171 | ambiguous | -0.454 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.5172 | ambiguous | 0.4458 | ambiguous | -0.584 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/Q | 0.3504 | ambiguous | 0.2929 | benign | -0.789 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/R | 0.4131 | ambiguous | 0.3462 | ambiguous | -0.195 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.570285366 | None | None | N |
| P/S | 0.2334 | likely_benign | 0.2022 | benign | -1.065 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.491433657 | None | None | N |
| P/T | 0.193 | likely_benign | 0.1694 | benign | -1.017 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.519567348 | None | None | N |
| P/V | 0.2813 | likely_benign | 0.244 | benign | -0.575 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/W | 0.7812 | likely_pathogenic | 0.7392 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Y | 0.5507 | ambiguous | 0.504 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.886 | deleterious | 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.