Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27375 | 82348;82349;82350 | chr2:178564009;178564008;178564007 | chr2:179428736;179428735;179428734 |
| N2AB | 25734 | 77425;77426;77427 | chr2:178564009;178564008;178564007 | chr2:179428736;179428735;179428734 |
| N2A | 24807 | 74644;74645;74646 | chr2:178564009;178564008;178564007 | chr2:179428736;179428735;179428734 |
| N2B | 18310 | 55153;55154;55155 | chr2:178564009;178564008;178564007 | chr2:179428736;179428735;179428734 |
| Novex-1 | 18435 | 55528;55529;55530 | chr2:178564009;178564008;178564007 | chr2:179428736;179428735;179428734 |
| Novex-2 | 18502 | 55729;55730;55731 | chr2:178564009;178564008;178564007 | chr2:179428736;179428735;179428734 |
| 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 | rs776304593  |
-1.014 | 0.83 | N | 0.741 | 0.261 | 0.306695030598 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| G/E | rs776304593 |
-1.014 | 0.83 | N | 0.741 | 0.261 | 0.306695030598 | gnomAD-4.0.0 | 3.42117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59802E-06 | 1.15937E-05 | 0 |
| G/R | rs557567114 |
-0.627 | 0.83 | N | 0.782 | 0.293 | 0.42989457901 | gnomAD-2.1.1 | 5.23E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.92234E-04 | None | 0 | 0 | 0 |
| G/R | rs557567114 |
-0.627 | 0.83 | N | 0.782 | 0.293 | 0.42989457901 | 1000 genomes | None | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/R | rs557567114 |
-0.627 | 0.83 | N | 0.782 | 0.293 | 0.42989457901 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99501E-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 | 0.3825 | ambiguous | 0.3503 | ambiguous | -0.325 | Destabilizing | 0.004 | N | 0.301 | neutral | N | 0.486302094 | None | None | N |
| G/C | 0.6326 | likely_pathogenic | 0.5711 | pathogenic | -0.801 | Destabilizing | 0.98 | D | 0.749 | deleterious | None | None | None | None | N |
| G/D | 0.7256 | likely_pathogenic | 0.6823 | pathogenic | -0.898 | Destabilizing | 0.866 | D | 0.765 | deleterious | None | None | None | None | N |
| G/E | 0.6945 | likely_pathogenic | 0.6452 | pathogenic | -1.066 | Destabilizing | 0.83 | D | 0.741 | deleterious | N | 0.478190915 | None | None | N |
| G/F | 0.8658 | likely_pathogenic | 0.8489 | pathogenic | -1.076 | Destabilizing | 0.98 | D | 0.767 | deleterious | None | None | None | None | N |
| G/H | 0.9058 | likely_pathogenic | 0.8878 | pathogenic | -0.58 | Destabilizing | 0.993 | D | 0.743 | deleterious | None | None | None | None | N |
| G/I | 0.7435 | likely_pathogenic | 0.7105 | pathogenic | -0.479 | Destabilizing | 0.866 | D | 0.773 | deleterious | None | None | None | None | N |
| G/K | 0.8788 | likely_pathogenic | 0.8514 | pathogenic | -0.963 | Destabilizing | 0.866 | D | 0.751 | deleterious | None | None | None | None | N |
| G/L | 0.814 | likely_pathogenic | 0.7851 | pathogenic | -0.479 | Destabilizing | 0.764 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/M | 0.8477 | likely_pathogenic | 0.8254 | pathogenic | -0.506 | Destabilizing | 0.98 | D | 0.746 | deleterious | None | None | None | None | N |
| G/N | 0.7633 | likely_pathogenic | 0.7326 | pathogenic | -0.513 | Destabilizing | 0.929 | D | 0.778 | deleterious | None | None | None | None | N |
| G/P | 0.9353 | likely_pathogenic | 0.9311 | pathogenic | -0.396 | Destabilizing | 0.013 | N | 0.509 | neutral | None | None | None | None | N |
| G/Q | 0.8521 | likely_pathogenic | 0.8263 | pathogenic | -0.838 | Destabilizing | 0.929 | D | 0.781 | deleterious | None | None | None | None | N |
| G/R | 0.8706 | likely_pathogenic | 0.8437 | pathogenic | -0.444 | Destabilizing | 0.83 | D | 0.782 | deleterious | N | 0.463075628 | None | None | N |
| G/S | 0.3845 | ambiguous | 0.3576 | ambiguous | -0.596 | Destabilizing | 0.48 | N | 0.584 | neutral | None | None | None | None | N |
| G/T | 0.6392 | likely_pathogenic | 0.5955 | pathogenic | -0.708 | Destabilizing | 0.764 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/V | 0.6703 | likely_pathogenic | 0.6249 | pathogenic | -0.396 | Destabilizing | 0.709 | D | 0.728 | prob.delet. | N | 0.494310615 | None | None | N |
| G/W | 0.8375 | likely_pathogenic | 0.8175 | pathogenic | -1.227 | Destabilizing | 0.991 | D | 0.745 | deleterious | N | 0.517276715 | None | None | N |
| G/Y | 0.7713 | likely_pathogenic | 0.745 | pathogenic | -0.895 | Destabilizing | 0.98 | D | 0.765 | 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.