Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5813 | 17662;17663;17664 | chr2:178731329;178731328;178731327 | chr2:179596056;179596055;179596054 |
| N2AB | 5496 | 16711;16712;16713 | chr2:178731329;178731328;178731327 | chr2:179596056;179596055;179596054 |
| N2A | 4569 | 13930;13931;13932 | chr2:178731329;178731328;178731327 | chr2:179596056;179596055;179596054 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 0.997 | N | 0.876 | 0.556 | 0.849943191251 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| C/S | rs368692616  |
-1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 2.89304E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | rs368692616 |
-1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 3.13616E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs368692616 |
-1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/S | rs368692616 |
-1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | gnomAD-4.0.0 | 1.73503E-05 | None | None | None | None | N | None | 3.46491E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09806E-05 | 1.60051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6473 | likely_pathogenic | 0.6704 | pathogenic | -1.883 | Destabilizing | 0.931 | D | 0.601 | neutral | None | None | None | None | N |
| C/D | 0.9215 | likely_pathogenic | 0.9048 | pathogenic | -0.521 | Destabilizing | 0.996 | D | 0.842 | deleterious | None | None | None | None | N |
| C/E | 0.9703 | likely_pathogenic | 0.9656 | pathogenic | -0.38 | Destabilizing | 0.996 | D | 0.859 | deleterious | None | None | None | None | N |
| C/F | 0.5882 | likely_pathogenic | 0.5702 | pathogenic | -1.099 | Destabilizing | 0.999 | D | 0.816 | deleterious | N | 0.49830331 | None | None | N |
| C/G | 0.3874 | ambiguous | 0.4147 | ambiguous | -2.22 | Highly Destabilizing | 0.98 | D | 0.796 | deleterious | N | 0.509659615 | None | None | N |
| C/H | 0.8739 | likely_pathogenic | 0.8679 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| C/I | 0.8296 | likely_pathogenic | 0.8057 | pathogenic | -0.997 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| C/K | 0.9855 | likely_pathogenic | 0.9816 | pathogenic | -1.146 | Destabilizing | 0.996 | D | 0.831 | deleterious | None | None | None | None | N |
| C/L | 0.8071 | likely_pathogenic | 0.8012 | pathogenic | -0.997 | Destabilizing | 0.993 | D | 0.691 | prob.neutral | None | None | None | None | N |
| C/M | 0.8612 | likely_pathogenic | 0.86 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| C/N | 0.6771 | likely_pathogenic | 0.6752 | pathogenic | -1.271 | Destabilizing | 0.996 | D | 0.861 | deleterious | None | None | None | None | N |
| C/P | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -1.268 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| C/Q | 0.9212 | likely_pathogenic | 0.9181 | pathogenic | -1.071 | Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | N |
| C/R | 0.9199 | likely_pathogenic | 0.9058 | pathogenic | -1.061 | Destabilizing | 0.997 | D | 0.876 | deleterious | N | 0.493757406 | None | None | N |
| C/S | 0.388 | ambiguous | 0.4211 | ambiguous | -1.826 | Destabilizing | 0.659 | D | 0.535 | neutral | N | 0.510814616 | None | None | N |
| C/T | 0.573 | likely_pathogenic | 0.5837 | pathogenic | -1.495 | Destabilizing | 0.971 | D | 0.721 | prob.delet. | None | None | None | None | N |
| C/V | 0.7076 | likely_pathogenic | 0.6887 | pathogenic | -1.268 | Destabilizing | 0.993 | D | 0.763 | deleterious | None | None | None | None | N |
| C/W | 0.8911 | likely_pathogenic | 0.8834 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.521776389 | None | None | N |
| C/Y | 0.7482 | likely_pathogenic | 0.7382 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.822 | deleterious | D | 0.5351557 | 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.