Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9420 | 28483;28484;28485 | chr2:178710839;178710838;178710837 | chr2:179575566;179575565;179575564 |
| N2AB | 9103 | 27532;27533;27534 | chr2:178710839;178710838;178710837 | chr2:179575566;179575565;179575564 |
| N2A | 8176 | 24751;24752;24753 | chr2:178710839;178710838;178710837 | chr2:179575566;179575565;179575564 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | None | None | 0.815 | None | 0.798 | 0.563 | 0.910719852269 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76599E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs777186750  |
-0.771 | 0.016 | None | 0.266 | 0.121 | 0.218112801441 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 1.23998E-04 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 1.56E-05 | 0 |
| V/I | rs777186750 |
-0.771 | 0.016 | None | 0.266 | 0.121 | 0.218112801441 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs777186750 |
-0.771 | 0.016 | None | 0.266 | 0.121 | 0.218112801441 | gnomAD-4.0.0 | 3.71812E-06 | None | None | None | None | N | None | 2.67073E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47583E-07 | 3.29366E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.658 | likely_pathogenic | 0.7648 | pathogenic | -2.336 | Highly Destabilizing | 0.472 | N | 0.601 | neutral | None | None | None | None | N |
| V/C | 0.9366 | likely_pathogenic | 0.9605 | pathogenic | -1.676 | Destabilizing | 0.996 | D | 0.757 | deleterious | None | None | None | None | N |
| V/D | 0.9876 | likely_pathogenic | 0.9951 | pathogenic | -3.06 | Highly Destabilizing | 0.939 | D | 0.824 | deleterious | None | None | None | None | N |
| V/E | 0.9635 | likely_pathogenic | 0.9841 | pathogenic | -2.791 | Highly Destabilizing | 0.953 | D | 0.794 | deleterious | None | None | None | None | N |
| V/F | 0.428 | ambiguous | 0.5885 | pathogenic | -1.296 | Destabilizing | 0.951 | D | 0.78 | deleterious | None | None | None | None | N |
| V/G | 0.8409 | likely_pathogenic | 0.9154 | pathogenic | -2.884 | Highly Destabilizing | 0.815 | D | 0.798 | deleterious | None | None | None | None | N |
| V/H | 0.9834 | likely_pathogenic | 0.9931 | pathogenic | -2.686 | Highly Destabilizing | 0.996 | D | 0.802 | deleterious | None | None | None | None | N |
| V/I | 0.0817 | likely_benign | 0.0851 | benign | -0.755 | Destabilizing | 0.016 | N | 0.266 | neutral | None | None | None | None | N |
| V/K | 0.9675 | likely_pathogenic | 0.9874 | pathogenic | -1.707 | Destabilizing | 0.854 | D | 0.785 | deleterious | None | None | None | None | N |
| V/L | 0.2987 | likely_benign | 0.4464 | ambiguous | -0.755 | Destabilizing | 0.007 | N | 0.24 | neutral | None | None | None | None | N |
| V/M | 0.299 | likely_benign | 0.4459 | ambiguous | -0.911 | Destabilizing | 0.101 | N | 0.414 | neutral | None | None | None | None | N |
| V/N | 0.9603 | likely_pathogenic | 0.984 | pathogenic | -2.209 | Highly Destabilizing | 0.953 | D | 0.825 | deleterious | None | None | None | None | N |
| V/P | 0.98 | likely_pathogenic | 0.9901 | pathogenic | -1.263 | Destabilizing | 0.984 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Q | 0.9453 | likely_pathogenic | 0.9789 | pathogenic | -1.942 | Destabilizing | 0.953 | D | 0.801 | deleterious | None | None | None | None | N |
| V/R | 0.9441 | likely_pathogenic | 0.9768 | pathogenic | -1.691 | Destabilizing | 0.953 | D | 0.825 | deleterious | None | None | None | None | N |
| V/S | 0.8757 | likely_pathogenic | 0.9292 | pathogenic | -2.749 | Highly Destabilizing | 0.59 | D | 0.748 | deleterious | None | None | None | None | N |
| V/T | 0.7588 | likely_pathogenic | 0.8461 | pathogenic | -2.344 | Highly Destabilizing | 0.037 | N | 0.401 | neutral | None | None | None | None | N |
| V/W | 0.9816 | likely_pathogenic | 0.9925 | pathogenic | -1.868 | Destabilizing | 0.996 | D | 0.796 | deleterious | None | None | None | None | N |
| V/Y | 0.9226 | likely_pathogenic | 0.9677 | pathogenic | -1.569 | Destabilizing | 0.953 | D | 0.778 | 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.