Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22592 | 67999;68000;68001 | chr2:178579256;178579255;178579254 | chr2:179443983;179443982;179443981 |
| N2AB | 20951 | 63076;63077;63078 | chr2:178579256;178579255;178579254 | chr2:179443983;179443982;179443981 |
| N2A | 20024 | 60295;60296;60297 | chr2:178579256;178579255;178579254 | chr2:179443983;179443982;179443981 |
| N2B | 13527 | 40804;40805;40806 | chr2:178579256;178579255;178579254 | chr2:179443983;179443982;179443981 |
| Novex-1 | 13652 | 41179;41180;41181 | chr2:178579256;178579255;178579254 | chr2:179443983;179443982;179443981 |
| Novex-2 | 13719 | 41380;41381;41382 | chr2:178579256;178579255;178579254 | chr2:179443983;179443982;179443981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 0.096 | N | 0.416 | 0.163 | 0.300110245524 | gnomAD-4.0.0 | 2.73748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59854E-06 | 0 | 0 |
| A/S | rs761567421  |
-0.335 | None | N | 0.179 | 0.058 | 0.0716867268079 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/S | rs761567421 |
-0.335 | None | N | 0.179 | 0.058 | 0.0716867268079 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99633E-07 | 1.15961E-05 | 0 |
| A/V | rs776461045 |
0.044 | None | N | 0.197 | 0.07 | 0.276898752692 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs776461045 |
0.044 | None | N | 0.197 | 0.07 | 0.276898752692 | gnomAD-4.0.0 | 1.36874E-06 | None | None | None | None | N | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 8.99635E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.32 | likely_benign | 0.3179 | benign | -0.862 | Destabilizing | 0.667 | D | 0.347 | neutral | None | None | None | None | N |
| A/D | 0.1694 | likely_benign | 0.1776 | benign | -0.531 | Destabilizing | 0.22 | N | 0.495 | neutral | None | None | None | None | N |
| A/E | 0.151 | likely_benign | 0.1552 | benign | -0.674 | Destabilizing | 0.096 | N | 0.416 | neutral | N | 0.439839952 | None | None | N |
| A/F | 0.2282 | likely_benign | 0.2251 | benign | -0.867 | Destabilizing | 0.331 | N | 0.525 | neutral | None | None | None | None | N |
| A/G | 0.1095 | likely_benign | 0.1066 | benign | -0.268 | Destabilizing | None | N | 0.149 | neutral | N | 0.44544056 | None | None | N |
| A/H | 0.2574 | likely_benign | 0.2589 | benign | -0.285 | Destabilizing | 0.667 | D | 0.46 | neutral | None | None | None | None | N |
| A/I | 0.126 | likely_benign | 0.1188 | benign | -0.344 | Destabilizing | 0.001 | N | 0.219 | neutral | None | None | None | None | N |
| A/K | 0.2254 | likely_benign | 0.216 | benign | -0.642 | Destabilizing | 0.004 | N | 0.225 | neutral | None | None | None | None | N |
| A/L | 0.0945 | likely_benign | 0.096 | benign | -0.344 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | N |
| A/M | 0.1496 | likely_benign | 0.1478 | benign | -0.52 | Destabilizing | 0.497 | N | 0.401 | neutral | None | None | None | None | N |
| A/N | 0.1507 | likely_benign | 0.144 | benign | -0.378 | Destabilizing | 0.124 | N | 0.487 | neutral | None | None | None | None | N |
| A/P | 0.0775 | likely_benign | 0.0866 | benign | -0.279 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.423179775 | None | None | N |
| A/Q | 0.1621 | likely_benign | 0.1708 | benign | -0.62 | Destabilizing | 0.497 | N | 0.467 | neutral | None | None | None | None | N |
| A/R | 0.227 | likely_benign | 0.2269 | benign | -0.209 | Destabilizing | 0.124 | N | 0.471 | neutral | None | None | None | None | N |
| A/S | 0.0851 | likely_benign | 0.085 | benign | -0.556 | Destabilizing | None | N | 0.179 | neutral | N | 0.408690326 | None | None | N |
| A/T | 0.0789 | likely_benign | 0.0723 | benign | -0.619 | Destabilizing | 0.042 | N | 0.251 | neutral | N | 0.427796161 | None | None | N |
| A/V | 0.0783 | likely_benign | 0.0761 | benign | -0.279 | Destabilizing | None | N | 0.197 | neutral | N | 0.454329402 | None | None | N |
| A/W | 0.5054 | ambiguous | 0.5318 | ambiguous | -1.005 | Destabilizing | 0.958 | D | 0.479 | neutral | None | None | None | None | N |
| A/Y | 0.2942 | likely_benign | 0.3002 | benign | -0.671 | Destabilizing | 0.667 | D | 0.5 | 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.