Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24805 | 74638;74639;74640 | chr2:178571719;178571718;178571717 | chr2:179436446;179436445;179436444 |
| N2AB | 23164 | 69715;69716;69717 | chr2:178571719;178571718;178571717 | chr2:179436446;179436445;179436444 |
| N2A | 22237 | 66934;66935;66936 | chr2:178571719;178571718;178571717 | chr2:179436446;179436445;179436444 |
| N2B | 15740 | 47443;47444;47445 | chr2:178571719;178571718;178571717 | chr2:179436446;179436445;179436444 |
| Novex-1 | 15865 | 47818;47819;47820 | chr2:178571719;178571718;178571717 | chr2:179436446;179436445;179436444 |
| Novex-2 | 15932 | 48019;48020;48021 | chr2:178571719;178571718;178571717 | chr2:179436446;179436445;179436444 |
| 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/F | None | None | 1.0 | D | 0.899 | 0.57 | 0.891787897704 | gnomAD-4.0.0 | 4.79029E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29712E-06 | 0 | 0 |
| V/G | rs1205583456  |
-2.043 | 1.0 | D | 0.869 | 0.783 | 0.927396517444 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| V/I | rs371306826 |
-0.605 | 0.999 | N | 0.737 | 0.389 | None | gnomAD-2.1.1 | 5.37E-05 | None | None | None | None | N | None | 1.24028E-04 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 7.07E-05 | 1.40726E-04 |
| V/I | rs371306826 |
-0.605 | 0.999 | N | 0.737 | 0.389 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/I | rs371306826 |
-0.605 | 0.999 | N | 0.737 | 0.389 | None | gnomAD-4.0.0 | 2.91331E-05 | None | None | None | None | N | None | 2.67215E-05 | 1.66778E-05 | None | 0 | 0 | None | 0 | 0 | 2.71283E-05 | 9.88381E-05 | 4.80446E-05 |
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 | 0.9166 | likely_pathogenic | 0.922 | pathogenic | -1.689 | Destabilizing | 0.999 | D | 0.777 | deleterious | D | 0.618054006 | None | None | N |
| V/C | 0.9805 | likely_pathogenic | 0.9801 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/D | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.618659419 | None | None | N |
| V/E | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/F | 0.9452 | likely_pathogenic | 0.9483 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.618054006 | None | None | N |
| V/G | 0.9741 | likely_pathogenic | 0.9767 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.618659419 | None | None | N |
| V/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/I | 0.0969 | likely_benign | 0.1026 | benign | -0.795 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.49027992 | None | None | N |
| V/K | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/L | 0.8237 | likely_pathogenic | 0.8289 | pathogenic | -0.795 | Destabilizing | 0.999 | D | 0.779 | deleterious | D | 0.616035963 | None | None | N |
| V/M | 0.8721 | likely_pathogenic | 0.8762 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/N | 0.9926 | likely_pathogenic | 0.993 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/P | 0.9837 | likely_pathogenic | 0.9848 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.9956 | likely_pathogenic | 0.9958 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/R | 0.994 | likely_pathogenic | 0.9944 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.9667 | likely_pathogenic | 0.9675 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/T | 0.8751 | likely_pathogenic | 0.8729 | pathogenic | -1.608 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/Y | 0.9963 | likely_pathogenic | 0.9966 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.905 | 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.