Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3547 | 10864;10865;10866 | chr2:178757581;178757580;178757579 | chr2:179622308;179622307;179622306 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3501 | 10726;10727;10728 | chr2:178757581;178757580;178757579 | chr2:179622308;179622307;179622306 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs761225274  |
0.576 | None | None | None | 0.211 | None | gnomAD-4.0.0 | 1.58622E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.77872E-04 | 0 | 9.05636E-07 | 1.17819E-05 | 1.67151E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1968 | likely_benign | None | None | -0.404 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.9213 | likely_pathogenic | None | None | 0.018 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.2619 | likely_benign | None | None | -0.406 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.7816 | likely_pathogenic | None | None | -0.351 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.3025 | likely_benign | None | None | -0.594 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.5994 | likely_pathogenic | None | None | -0.153 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.4015 | ambiguous | None | None | 0.063 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.1735 | likely_benign | None | None | 0.365 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.5281 | ambiguous | None | None | 0.063 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.4902 | ambiguous | None | None | 0.204 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.3957 | ambiguous | None | None | 0.071 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.9481 | likely_pathogenic | None | None | -0.073 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.1726 | likely_benign | None | None | 0.082 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.3454 | ambiguous | None | None | 0.53 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.2581 | likely_benign | None | None | -0.088 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.2567 | likely_benign | None | None | 0.066 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.2333 | likely_benign | None | None | -0.073 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.9373 | likely_pathogenic | None | None | -0.208 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.7118 | likely_pathogenic | None | None | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.