Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7241 | 21946;21947;21948 | chr2:178723286;178723285;178723284 | chr2:179588013;179588012;179588011 |
| N2AB | 6924 | 20995;20996;20997 | chr2:178723286;178723285;178723284 | chr2:179588013;179588012;179588011 |
| N2A | 5997 | 18214;18215;18216 | chr2:178723286;178723285;178723284 | chr2:179588013;179588012;179588011 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1292676739  |
-1.141 | 0.013 | N | 0.233 | 0.171 | 0.374434639691 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1292676739 |
-1.141 | 0.013 | N | 0.233 | 0.171 | 0.374434639691 | gnomAD-4.0.0 | 1.59215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs367854582 |
-0.406 | 0.003 | N | 0.307 | 0.127 | None | gnomAD-2.1.1 | 6.11E-05 | None | None | None | None | N | None | 5.79998E-04 | 8.51E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs367854582 |
-0.406 | 0.003 | N | 0.307 | 0.127 | None | gnomAD-3.1.2 | 1.90639E-04 | None | None | None | None | N | None | 6.75578E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs367854582 |
-0.406 | 0.003 | N | 0.307 | 0.127 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs367854582 |
-0.406 | 0.003 | N | 0.307 | 0.127 | None | gnomAD-4.0.0 | 3.47095E-05 | None | None | None | None | N | None | 6.66578E-04 | 5.00267E-05 | None | 0 | 0 | None | 0 | 0 | 8.47748E-07 | 0 | 3.20236E-05 |
| V/L | None | None | 0.068 | D | 0.449 | 0.165 | 0.154104182512 | gnomAD-4.0.0 | 6.8439E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99603E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1998 | likely_benign | 0.2266 | benign | -1.621 | Destabilizing | 0.013 | N | 0.233 | neutral | N | 0.50093127 | None | None | N |
| V/C | 0.8101 | likely_pathogenic | 0.812 | pathogenic | -1.27 | Destabilizing | 0.991 | D | 0.53 | neutral | None | None | None | None | N |
| V/D | 0.6693 | likely_pathogenic | 0.7539 | pathogenic | -1.544 | Destabilizing | 0.906 | D | 0.619 | neutral | None | None | None | None | N |
| V/E | 0.4931 | ambiguous | 0.5799 | pathogenic | -1.545 | Destabilizing | 0.879 | D | 0.557 | neutral | D | 0.530079091 | None | None | N |
| V/F | 0.2459 | likely_benign | 0.2653 | benign | -1.412 | Destabilizing | 0.826 | D | 0.548 | neutral | None | None | None | None | N |
| V/G | 0.3774 | ambiguous | 0.4375 | ambiguous | -1.943 | Destabilizing | 0.505 | D | 0.579 | neutral | N | 0.514683861 | None | None | N |
| V/H | 0.7793 | likely_pathogenic | 0.8288 | pathogenic | -1.532 | Destabilizing | 0.991 | D | 0.611 | neutral | None | None | None | None | N |
| V/I | 0.082 | likely_benign | 0.0806 | benign | -0.827 | Destabilizing | 0.003 | N | 0.307 | neutral | N | 0.499835192 | None | None | N |
| V/K | 0.5775 | likely_pathogenic | 0.6577 | pathogenic | -1.248 | Destabilizing | 0.906 | D | 0.559 | neutral | None | None | None | None | N |
| V/L | 0.2616 | likely_benign | 0.2638 | benign | -0.827 | Destabilizing | 0.068 | N | 0.449 | neutral | D | 0.539124299 | None | None | N |
| V/M | 0.1731 | likely_benign | 0.1863 | benign | -0.648 | Destabilizing | 0.826 | D | 0.505 | neutral | None | None | None | None | N |
| V/N | 0.5698 | likely_pathogenic | 0.6327 | pathogenic | -1.057 | Destabilizing | 0.967 | D | 0.628 | neutral | None | None | None | None | N |
| V/P | 0.8758 | likely_pathogenic | 0.8973 | pathogenic | -1.058 | Destabilizing | 0.01 | N | 0.371 | neutral | None | None | None | None | N |
| V/Q | 0.4923 | ambiguous | 0.5754 | pathogenic | -1.251 | Destabilizing | 0.967 | D | 0.577 | neutral | None | None | None | None | N |
| V/R | 0.4862 | ambiguous | 0.5647 | pathogenic | -0.768 | Destabilizing | 0.906 | D | 0.627 | neutral | None | None | None | None | N |
| V/S | 0.3146 | likely_benign | 0.3789 | ambiguous | -1.611 | Destabilizing | 0.404 | N | 0.521 | neutral | None | None | None | None | N |
| V/T | 0.1792 | likely_benign | 0.2075 | benign | -1.498 | Destabilizing | 0.575 | D | 0.487 | neutral | None | None | None | None | N |
| V/W | 0.8766 | likely_pathogenic | 0.902 | pathogenic | -1.585 | Destabilizing | 0.991 | D | 0.608 | neutral | None | None | None | None | N |
| V/Y | 0.7298 | likely_pathogenic | 0.7602 | pathogenic | -1.284 | Destabilizing | 0.906 | D | 0.547 | neutral | 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.