Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25088 | 75487;75488;75489 | chr2:178570870;178570869;178570868 | chr2:179435597;179435596;179435595 |
| N2AB | 23447 | 70564;70565;70566 | chr2:178570870;178570869;178570868 | chr2:179435597;179435596;179435595 |
| N2A | 22520 | 67783;67784;67785 | chr2:178570870;178570869;178570868 | chr2:179435597;179435596;179435595 |
| N2B | 16023 | 48292;48293;48294 | chr2:178570870;178570869;178570868 | chr2:179435597;179435596;179435595 |
| Novex-1 | 16148 | 48667;48668;48669 | chr2:178570870;178570869;178570868 | chr2:179435597;179435596;179435595 |
| Novex-2 | 16215 | 48868;48869;48870 | chr2:178570870;178570869;178570868 | chr2:179435597;179435596;179435595 |
| 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 | rs1158992381  |
-0.84 | 1.0 | D | 0.867 | 0.611 | 0.659170725732 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| G/E | rs1158992381 |
-0.84 | 1.0 | D | 0.867 | 0.611 | 0.659170725732 | gnomAD-4.0.0 | 6.84311E-07 | None | None | None | None | I | None | 2.99007E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs773853569 |
-0.356 | 1.0 | D | 0.851 | 0.637 | 0.656546064563 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4E-05 | 3.13E-05 | 1.40371E-04 |
| G/R | rs773853569 |
-0.356 | 1.0 | D | 0.851 | 0.637 | 0.656546064563 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs773853569 |
-0.356 | 1.0 | D | 0.851 | 0.637 | 0.656546064563 | gnomAD-4.0.0 | 8.05733E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.68662E-05 | 0 | 8.47723E-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 | 0.4042 | ambiguous | 0.4149 | ambiguous | -0.443 | Destabilizing | 0.983 | D | 0.646 | neutral | D | 0.540491938 | None | None | I |
| G/C | 0.5472 | ambiguous | 0.5761 | pathogenic | -0.84 | Destabilizing | 0.713 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/D | 0.4194 | ambiguous | 0.5321 | ambiguous | -0.45 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/E | 0.5754 | likely_pathogenic | 0.6669 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.544757899 | None | None | I |
| G/F | 0.915 | likely_pathogenic | 0.9259 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/H | 0.7495 | likely_pathogenic | 0.7979 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/I | 0.9031 | likely_pathogenic | 0.9117 | pathogenic | -0.447 | Destabilizing | 0.998 | D | 0.838 | deleterious | None | None | None | None | I |
| G/K | 0.8297 | likely_pathogenic | 0.8703 | pathogenic | -0.873 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | I |
| G/L | 0.8204 | likely_pathogenic | 0.8347 | pathogenic | -0.447 | Destabilizing | 0.996 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.8398 | likely_pathogenic | 0.8553 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/N | 0.4253 | ambiguous | 0.477 | ambiguous | -0.507 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/P | 0.9929 | likely_pathogenic | 0.9943 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.6591 | likely_pathogenic | 0.7146 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/R | 0.7023 | likely_pathogenic | 0.7565 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.551341265 | None | None | I |
| G/S | 0.2208 | likely_benign | 0.2338 | benign | -0.718 | Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | I |
| G/T | 0.6108 | likely_pathogenic | 0.6432 | pathogenic | -0.776 | Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | I |
| G/V | 0.7857 | likely_pathogenic | 0.8021 | pathogenic | -0.409 | Destabilizing | 0.997 | D | 0.862 | deleterious | D | 0.532035695 | None | None | I |
| G/W | 0.8359 | likely_pathogenic | 0.8621 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.8197 | likely_pathogenic | 0.8492 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
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.