Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17637 | 53134;53135;53136 | chr2:178607878;178607877;178607876 | chr2:179472605;179472604;179472603 |
| N2AB | 15996 | 48211;48212;48213 | chr2:178607878;178607877;178607876 | chr2:179472605;179472604;179472603 |
| N2A | 15069 | 45430;45431;45432 | chr2:178607878;178607877;178607876 | chr2:179472605;179472604;179472603 |
| N2B | 8572 | 25939;25940;25941 | chr2:178607878;178607877;178607876 | chr2:179472605;179472604;179472603 |
| Novex-1 | 8697 | 26314;26315;26316 | chr2:178607878;178607877;178607876 | chr2:179472605;179472604;179472603 |
| Novex-2 | 8764 | 26515;26516;26517 | chr2:178607878;178607877;178607876 | chr2:179472605;179472604;179472603 |
| 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/D | None | None | 1.0 | N | 0.803 | 0.506 | 0.491928505054 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.803 | 0.509 | 0.446111551642 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4685 | ambiguous | 0.4208 | ambiguous | -0.287 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.493825722 | None | None | N |
| G/C | 0.6023 | likely_pathogenic | 0.5702 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.539303851 | None | None | N |
| G/D | 0.4271 | ambiguous | 0.4011 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.485405478 | None | None | N |
| G/E | 0.5966 | likely_pathogenic | 0.5379 | ambiguous | -0.863 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/F | 0.8985 | likely_pathogenic | 0.8779 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/H | 0.7367 | likely_pathogenic | 0.7173 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/I | 0.8801 | likely_pathogenic | 0.8619 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/K | 0.7178 | likely_pathogenic | 0.6923 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.8704 | likely_pathogenic | 0.8443 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/M | 0.8477 | likely_pathogenic | 0.82 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/N | 0.458 | ambiguous | 0.4408 | ambiguous | -0.485 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/P | 0.9925 | likely_pathogenic | 0.9911 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/Q | 0.6901 | likely_pathogenic | 0.6483 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/R | 0.6674 | likely_pathogenic | 0.6255 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.503802903 | None | None | N |
| G/S | 0.3517 | ambiguous | 0.3206 | benign | -0.612 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.498407625 | None | None | N |
| G/T | 0.6082 | likely_pathogenic | 0.5788 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/V | 0.7653 | likely_pathogenic | 0.7348 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.520692617 | None | None | N |
| G/W | 0.8113 | likely_pathogenic | 0.7799 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Y | 0.7813 | likely_pathogenic | 0.7489 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.801 | 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.