Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29747 | 89464;89465;89466 | chr2:178553766;178553765;178553764 | chr2:179418493;179418492;179418491 |
| N2AB | 28106 | 84541;84542;84543 | chr2:178553766;178553765;178553764 | chr2:179418493;179418492;179418491 |
| N2A | 27179 | 81760;81761;81762 | chr2:178553766;178553765;178553764 | chr2:179418493;179418492;179418491 |
| N2B | 20682 | 62269;62270;62271 | chr2:178553766;178553765;178553764 | chr2:179418493;179418492;179418491 |
| Novex-1 | 20807 | 62644;62645;62646 | chr2:178553766;178553765;178553764 | chr2:179418493;179418492;179418491 |
| Novex-2 | 20874 | 62845;62846;62847 | chr2:178553766;178553765;178553764 | chr2:179418493;179418492;179418491 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.476 | 0.435 | 0.244539031024 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| T/S | rs2154152263  |
-0.608 | 0.999 | N | 0.51 | 0.308 | 0.211220785272 | gnomAD-2.1.1 | 4.1885E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 3.35821E-03 | None | 0 | 0 | 3.4118E-04 |
| T/S | rs2154152263 |
-0.608 | 0.999 | N | 0.51 | 0.308 | 0.211220785272 | gnomAD-3.1.2 | 1.117E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 3.52259E-03 | 0 |
| T/S | rs2154152263 |
-0.608 | 0.999 | N | 0.51 | 0.308 | 0.211220785272 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 3.1E-03 | None |
| T/S | rs2154152263 |
-0.608 | 0.999 | N | 0.51 | 0.308 | 0.211220785272 | gnomAD-4.0.0 | 6.56444E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4297 | ambiguous | 0.4298 | ambiguous | -0.692 | Destabilizing | 0.999 | D | 0.476 | neutral | N | 0.471994803 | None | None | N |
| T/C | 0.8585 | likely_pathogenic | 0.8719 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/D | 0.7829 | likely_pathogenic | 0.7656 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| T/E | 0.8741 | likely_pathogenic | 0.8647 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/F | 0.9194 | likely_pathogenic | 0.9152 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/G | 0.4118 | ambiguous | 0.4674 | ambiguous | -0.862 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| T/H | 0.7163 | likely_pathogenic | 0.7271 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/I | 0.9603 | likely_pathogenic | 0.9524 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.497620703 | None | None | N |
| T/K | 0.7266 | likely_pathogenic | 0.7351 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/L | 0.6669 | likely_pathogenic | 0.6494 | pathogenic | -0.34 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/M | 0.5404 | ambiguous | 0.5237 | ambiguous | 0.205 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/N | 0.409 | ambiguous | 0.4356 | ambiguous | -0.624 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.469459908 | None | None | N |
| T/P | 0.8712 | likely_pathogenic | 0.8446 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.512762444 | None | None | N |
| T/Q | 0.6718 | likely_pathogenic | 0.6947 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/R | 0.6887 | likely_pathogenic | 0.6923 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/S | 0.1815 | likely_benign | 0.221 | benign | -0.767 | Destabilizing | 0.999 | D | 0.51 | neutral | N | 0.459492 | None | None | N |
| T/V | 0.8534 | likely_pathogenic | 0.844 | pathogenic | -0.43 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| T/W | 0.9768 | likely_pathogenic | 0.9723 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/Y | 0.8999 | likely_pathogenic | 0.8996 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.771 | 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.