Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7170 | 21733;21734;21735 | chr2:178723592;178723591;178723590 | chr2:179588319;179588318;179588317 |
| N2AB | 6853 | 20782;20783;20784 | chr2:178723592;178723591;178723590 | chr2:179588319;179588318;179588317 |
| N2A | 5926 | 18001;18002;18003 | chr2:178723592;178723591;178723590 | chr2:179588319;179588318;179588317 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs755516123  |
-1.937 | 1.0 | D | 0.887 | 0.915 | 0.954065469025 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| W/R | rs755516123 |
-1.937 | 1.0 | D | 0.887 | 0.915 | 0.954065469025 | gnomAD-4.0.0 | 3.18516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72004E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9868 | likely_pathogenic | 0.9817 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/C | 0.9885 | likely_pathogenic | 0.9846 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.698654324 | None | None | N |
| W/D | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -3.172 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/E | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -3.064 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/F | 0.6197 | likely_pathogenic | 0.5299 | ambiguous | -1.891 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/G | 0.9443 | likely_pathogenic | 0.9325 | pathogenic | -3.321 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.71447188 | None | None | N |
| W/H | 0.9916 | likely_pathogenic | 0.9903 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/I | 0.9541 | likely_pathogenic | 0.9187 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/L | 0.8992 | likely_pathogenic | 0.8497 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.71447188 | None | None | N |
| W/M | 0.9843 | likely_pathogenic | 0.9758 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/N | 0.9976 | likely_pathogenic | 0.9969 | pathogenic | -3.051 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/P | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/Q | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/R | 0.9969 | likely_pathogenic | 0.9962 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.714673685 | None | None | N |
| W/S | 0.9776 | likely_pathogenic | 0.9726 | pathogenic | -3.248 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.714673685 | None | None | N |
| W/T | 0.9877 | likely_pathogenic | 0.9824 | pathogenic | -3.075 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/V | 0.9591 | likely_pathogenic | 0.9309 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/Y | 0.852 | likely_pathogenic | 0.8154 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.788 | 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.