Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7298 | 22117;22118;22119 | chr2:178723115;178723114;178723113 | chr2:179587842;179587841;179587840 |
| N2AB | 6981 | 21166;21167;21168 | chr2:178723115;178723114;178723113 | chr2:179587842;179587841;179587840 |
| N2A | 6054 | 18385;18386;18387 | chr2:178723115;178723114;178723113 | chr2:179587842;179587841;179587840 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs878854292  |
-0.494 | 0.953 | D | 0.781 | 0.656 | 0.622375070377 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/R | rs878854292 |
-0.494 | 0.953 | D | 0.781 | 0.656 | 0.622375070377 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs878854292 |
-0.494 | 0.953 | D | 0.781 | 0.656 | 0.622375070377 | gnomAD-4.0.0 | 4.33837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08606E-06 | 0 | 1.60154E-05 |
| G/W | None | None | 1.0 | D | 0.778 | 0.684 | 0.500488203797 | gnomAD-4.0.0 | 6.84291E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99533E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2787 | likely_benign | 0.3464 | ambiguous | -0.509 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.564718652 | None | None | N |
| G/C | 0.7357 | likely_pathogenic | 0.8119 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/D | 0.823 | likely_pathogenic | 0.8934 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/E | 0.8607 | likely_pathogenic | 0.9224 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.65181968 | None | None | N |
| G/F | 0.9542 | likely_pathogenic | 0.974 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/H | 0.9403 | likely_pathogenic | 0.9647 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/I | 0.9416 | likely_pathogenic | 0.9674 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/K | 0.9298 | likely_pathogenic | 0.9606 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/L | 0.9211 | likely_pathogenic | 0.9517 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/M | 0.9475 | likely_pathogenic | 0.9703 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/N | 0.8792 | likely_pathogenic | 0.9211 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/P | 0.9948 | likely_pathogenic | 0.9964 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/Q | 0.869 | likely_pathogenic | 0.9192 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/R | 0.8314 | likely_pathogenic | 0.8916 | pathogenic | -0.749 | Destabilizing | 0.953 | D | 0.781 | deleterious | D | 0.651617876 | None | None | N |
| G/S | 0.3054 | likely_benign | 0.3946 | ambiguous | -0.956 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/T | 0.7904 | likely_pathogenic | 0.8586 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/V | 0.8672 | likely_pathogenic | 0.9198 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.65181968 | None | None | N |
| G/W | 0.9477 | likely_pathogenic | 0.9705 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.652021484 | None | None | N |
| G/Y | 0.946 | likely_pathogenic | 0.9687 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.844 | 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.