Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33210 | 99853;99854;99855 | chr2:178537579;178537578;178537577 | chr2:179402306;179402305;179402304 |
| N2AB | 31569 | 94930;94931;94932 | chr2:178537579;178537578;178537577 | chr2:179402306;179402305;179402304 |
| N2A | 30642 | 92149;92150;92151 | chr2:178537579;178537578;178537577 | chr2:179402306;179402305;179402304 |
| N2B | 24145 | 72658;72659;72660 | chr2:178537579;178537578;178537577 | chr2:179402306;179402305;179402304 |
| Novex-1 | 24270 | 73033;73034;73035 | chr2:178537579;178537578;178537577 | chr2:179402306;179402305;179402304 |
| Novex-2 | 24337 | 73234;73235;73236 | chr2:178537579;178537578;178537577 | chr2:179402306;179402305;179402304 |
| 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/G | rs1482941539  |
-1.871 | 0.898 | N | 0.411 | 0.172 | 0.724417562041 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/M | None | None | 0.993 | N | 0.36 | 0.19 | 0.340992353424 | 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 |
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 | 0.0996 | likely_benign | 0.1037 | benign | -0.758 | Destabilizing | 0.007 | N | 0.146 | neutral | N | 0.397949604 | None | None | N |
| V/C | 0.7483 | likely_pathogenic | 0.7983 | pathogenic | -0.819 | Destabilizing | 0.048 | N | 0.27 | neutral | None | None | None | None | N |
| V/D | 0.4913 | ambiguous | 0.5775 | pathogenic | -0.191 | Destabilizing | 0.992 | D | 0.459 | neutral | None | None | None | None | N |
| V/E | 0.3273 | likely_benign | 0.3596 | ambiguous | -0.274 | Destabilizing | 0.88 | D | 0.413 | neutral | N | 0.424517343 | None | None | N |
| V/F | 0.2565 | likely_benign | 0.3593 | ambiguous | -0.764 | Destabilizing | 0.989 | D | 0.319 | neutral | None | None | None | None | N |
| V/G | 0.2719 | likely_benign | 0.3469 | ambiguous | -0.944 | Destabilizing | 0.898 | D | 0.411 | neutral | N | 0.50586929 | None | None | N |
| V/H | 0.6787 | likely_pathogenic | 0.7578 | pathogenic | -0.37 | Destabilizing | 0.999 | D | 0.459 | neutral | None | None | None | None | N |
| V/I | 0.088 | likely_benign | 0.1002 | benign | -0.402 | Destabilizing | 0.309 | N | 0.386 | neutral | None | None | None | None | N |
| V/K | 0.3922 | ambiguous | 0.3988 | ambiguous | -0.564 | Destabilizing | 0.955 | D | 0.404 | neutral | None | None | None | None | N |
| V/L | 0.2481 | likely_benign | 0.3241 | benign | -0.402 | Destabilizing | 0.252 | N | 0.421 | neutral | N | 0.466521468 | None | None | N |
| V/M | 0.171 | likely_benign | 0.2246 | benign | -0.414 | Destabilizing | 0.993 | D | 0.36 | neutral | N | 0.505695932 | None | None | N |
| V/N | 0.3294 | likely_benign | 0.3895 | ambiguous | -0.358 | Destabilizing | 0.865 | D | 0.461 | neutral | None | None | None | None | N |
| V/P | 0.5567 | ambiguous | 0.606 | pathogenic | -0.484 | Destabilizing | 0.865 | D | 0.426 | neutral | None | None | None | None | N |
| V/Q | 0.3744 | ambiguous | 0.4122 | ambiguous | -0.582 | Destabilizing | 0.968 | D | 0.428 | neutral | None | None | None | None | N |
| V/R | 0.3522 | ambiguous | 0.3636 | ambiguous | -0.035 | Destabilizing | 0.989 | D | 0.459 | neutral | None | None | None | None | N |
| V/S | 0.1829 | likely_benign | 0.2045 | benign | -0.847 | Destabilizing | 0.777 | D | 0.391 | neutral | None | None | None | None | N |
| V/T | 0.1429 | likely_benign | 0.1511 | benign | -0.82 | Destabilizing | 0.738 | D | 0.311 | neutral | None | None | None | None | N |
| V/W | 0.9063 | likely_pathogenic | 0.9464 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.576 | neutral | None | None | None | None | N |
| V/Y | 0.7151 | likely_pathogenic | 0.7883 | pathogenic | -0.527 | Destabilizing | 0.996 | D | 0.321 | 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.