Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25211 | 75856;75857;75858 | chr2:178570501;178570500;178570499 | chr2:179435228;179435227;179435226 |
| N2AB | 23570 | 70933;70934;70935 | chr2:178570501;178570500;178570499 | chr2:179435228;179435227;179435226 |
| N2A | 22643 | 68152;68153;68154 | chr2:178570501;178570500;178570499 | chr2:179435228;179435227;179435226 |
| N2B | 16146 | 48661;48662;48663 | chr2:178570501;178570500;178570499 | chr2:179435228;179435227;179435226 |
| Novex-1 | 16271 | 49036;49037;49038 | chr2:178570501;178570500;178570499 | chr2:179435228;179435227;179435226 |
| Novex-2 | 16338 | 49237;49238;49239 | chr2:178570501;178570500;178570499 | chr2:179435228;179435227;179435226 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs770140755  |
-2.013 | 1.0 | N | 0.827 | 0.4 | 0.454798141022 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs770140755 |
-2.013 | 1.0 | N | 0.827 | 0.4 | 0.454798141022 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | N | None | 0 | 2.28843E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2232 | likely_benign | 0.2199 | benign | -0.538 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.498956467 | None | None | N |
| P/C | 0.7015 | likely_pathogenic | 0.7073 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/D | 0.5867 | likely_pathogenic | 0.602 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/E | 0.4567 | ambiguous | 0.465 | ambiguous | -0.476 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/F | 0.7943 | likely_pathogenic | 0.7839 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/G | 0.5753 | likely_pathogenic | 0.5863 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/H | 0.4278 | ambiguous | 0.4227 | ambiguous | -0.072 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.520796932 | None | None | N |
| P/I | 0.6267 | likely_pathogenic | 0.612 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| P/K | 0.4899 | ambiguous | 0.4908 | ambiguous | -0.598 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/L | 0.3064 | likely_benign | 0.2966 | benign | -0.32 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.488188684 | None | None | N |
| P/M | 0.5454 | ambiguous | 0.5388 | ambiguous | -0.58 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/N | 0.5417 | ambiguous | 0.5459 | ambiguous | -0.473 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/Q | 0.3839 | ambiguous | 0.3838 | ambiguous | -0.667 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/R | 0.3888 | ambiguous | 0.3861 | ambiguous | -0.074 | Destabilizing | 1.0 | D | 0.929 | deleterious | N | 0.520289953 | None | None | N |
| P/S | 0.3479 | ambiguous | 0.3456 | ambiguous | -0.826 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.484815458 | None | None | N |
| P/T | 0.2555 | likely_benign | 0.2556 | benign | -0.813 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.513453098 | None | None | N |
| P/V | 0.4624 | ambiguous | 0.457 | ambiguous | -0.36 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/W | 0.8888 | likely_pathogenic | 0.884 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/Y | 0.7568 | likely_pathogenic | 0.7482 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.92 | 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.