Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33550 | 100873;100874;100875 | chr2:178536099;178536098;178536097 | chr2:179400826;179400825;179400824 |
| N2AB | 31909 | 95950;95951;95952 | chr2:178536099;178536098;178536097 | chr2:179400826;179400825;179400824 |
| N2A | 30982 | 93169;93170;93171 | chr2:178536099;178536098;178536097 | chr2:179400826;179400825;179400824 |
| N2B | 24485 | 73678;73679;73680 | chr2:178536099;178536098;178536097 | chr2:179400826;179400825;179400824 |
| Novex-1 | 24610 | 74053;74054;74055 | chr2:178536099;178536098;178536097 | chr2:179400826;179400825;179400824 |
| Novex-2 | 24677 | 74254;74255;74256 | chr2:178536099;178536098;178536097 | chr2:179400826;179400825;179400824 |
| 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 | rs370253076  |
-0.268 | 1.0 | N | 0.663 | 0.595 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs370253076 |
-0.268 | 1.0 | N | 0.663 | 0.595 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs370253076 |
-0.268 | 1.0 | N | 0.663 | 0.595 | None | gnomAD-4.0.0 | 2.56736E-06 | None | None | None | None | N | None | 1.69342E-05 | 1.69543E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs775985787 |
-0.593 | 1.0 | D | 0.68 | 0.63 | 0.511790803624 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| G/S | rs775985787 |
-0.593 | 1.0 | D | 0.68 | 0.63 | 0.511790803624 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs775985787 |
-0.593 | 1.0 | D | 0.68 | 0.63 | 0.511790803624 | gnomAD-4.0.0 | 1.86106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54542E-06 | 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 | 0.6925 | likely_pathogenic | 0.5021 | ambiguous | -0.256 | Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.567317718 | None | None | N |
| G/C | 0.9171 | likely_pathogenic | 0.8058 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | D | 0.56689742 | None | None | N |
| G/D | 0.9262 | likely_pathogenic | 0.7221 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.512316971 | None | None | N |
| G/E | 0.9681 | likely_pathogenic | 0.8531 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/F | 0.982 | likely_pathogenic | 0.9613 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| G/H | 0.9831 | likely_pathogenic | 0.9376 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/I | 0.9638 | likely_pathogenic | 0.9083 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/K | 0.9914 | likely_pathogenic | 0.9695 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/L | 0.9692 | likely_pathogenic | 0.9271 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/M | 0.9751 | likely_pathogenic | 0.929 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/N | 0.903 | likely_pathogenic | 0.699 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/P | 0.9921 | likely_pathogenic | 0.9741 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/Q | 0.9773 | likely_pathogenic | 0.9154 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/R | 0.9824 | likely_pathogenic | 0.9413 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | D | 0.542439769 | None | None | N |
| G/S | 0.6487 | likely_pathogenic | 0.3911 | ambiguous | -0.57 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.553713067 | None | None | N |
| G/T | 0.8886 | likely_pathogenic | 0.6994 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/V | 0.926 | likely_pathogenic | 0.823 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.55047445 | None | None | N |
| G/W | 0.9701 | likely_pathogenic | 0.9186 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/Y | 0.968 | likely_pathogenic | 0.9129 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.655 | 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.