Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32583 | 97972;97973;97974 | chr2:178541330;178541329;178541328 | chr2:179406057;179406056;179406055 |
| N2AB | 30942 | 93049;93050;93051 | chr2:178541330;178541329;178541328 | chr2:179406057;179406056;179406055 |
| N2A | 30015 | 90268;90269;90270 | chr2:178541330;178541329;178541328 | chr2:179406057;179406056;179406055 |
| N2B | 23518 | 70777;70778;70779 | chr2:178541330;178541329;178541328 | chr2:179406057;179406056;179406055 |
| Novex-1 | 23643 | 71152;71153;71154 | chr2:178541330;178541329;178541328 | chr2:179406057;179406056;179406055 |
| Novex-2 | 23710 | 71353;71354;71355 | chr2:178541330;178541329;178541328 | chr2:179406057;179406056;179406055 |
| 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/R | None | None | 1.0 | D | 0.925 | 0.572 | 0.72327570688 | gnomAD-4.0.0 | 1.72322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.10451E-06 | 0 | 0 |
| G/W | None | None | 1.0 | D | 0.873 | 0.583 | 0.70776508276 | gnomAD-4.0.0 | 1.72322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.94221E-05 | None | 0 | 0 | 0 | 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 | 0.5029 | ambiguous | 0.5649 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.547158345 | None | None | N |
| G/C | 0.782 | likely_pathogenic | 0.8204 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/D | 0.9697 | likely_pathogenic | 0.9768 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/E | 0.9803 | likely_pathogenic | 0.9847 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.546904855 | None | None | N |
| G/F | 0.9939 | likely_pathogenic | 0.9953 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/H | 0.9819 | likely_pathogenic | 0.9861 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/I | 0.9868 | likely_pathogenic | 0.9908 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/K | 0.9945 | likely_pathogenic | 0.9953 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| G/L | 0.9806 | likely_pathogenic | 0.9863 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/M | 0.986 | likely_pathogenic | 0.9897 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/N | 0.96 | likely_pathogenic | 0.9662 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/P | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/Q | 0.9775 | likely_pathogenic | 0.9815 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/R | 0.9772 | likely_pathogenic | 0.9825 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.528547111 | None | None | N |
| G/S | 0.1558 | likely_benign | 0.1816 | benign | -1.032 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/T | 0.7812 | likely_pathogenic | 0.8135 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/V | 0.9623 | likely_pathogenic | 0.9732 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.529561069 | None | None | N |
| G/W | 0.9821 | likely_pathogenic | 0.9872 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.548425792 | None | None | N |
| G/Y | 0.9898 | likely_pathogenic | 0.9927 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.888 | 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.