Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25367 | 76324;76325;76326 | chr2:178570033;178570032;178570031 | chr2:179434760;179434759;179434758 |
| N2AB | 23726 | 71401;71402;71403 | chr2:178570033;178570032;178570031 | chr2:179434760;179434759;179434758 |
| N2A | 22799 | 68620;68621;68622 | chr2:178570033;178570032;178570031 | chr2:179434760;179434759;179434758 |
| N2B | 16302 | 49129;49130;49131 | chr2:178570033;178570032;178570031 | chr2:179434760;179434759;179434758 |
| Novex-1 | 16427 | 49504;49505;49506 | chr2:178570033;178570032;178570031 | chr2:179434760;179434759;179434758 |
| Novex-2 | 16494 | 49705;49706;49707 | chr2:178570033;178570032;178570031 | chr2:179434760;179434759;179434758 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs756655305  |
-0.082 | 0.999 | N | 0.791 | 0.456 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| T/I | rs756655305 |
-0.082 | 0.999 | N | 0.791 | 0.456 | None | gnomAD-4.0.0 | 1.11467E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.00191E-05 | 0 | 0 |
| T/N | None | None | 0.999 | N | 0.633 | 0.374 | 0.46614307118 | gnomAD-4.0.0 | 1.59239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77901E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1127 | likely_benign | 0.0978 | benign | -0.627 | Destabilizing | 0.981 | D | 0.457 | neutral | N | 0.480918346 | None | None | N |
| T/C | 0.472 | ambiguous | 0.4779 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/D | 0.7176 | likely_pathogenic | 0.6191 | pathogenic | 0.213 | Stabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| T/E | 0.6762 | likely_pathogenic | 0.5544 | ambiguous | 0.154 | Stabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/F | 0.4306 | ambiguous | 0.3733 | ambiguous | -1.014 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/G | 0.2398 | likely_benign | 0.2151 | benign | -0.788 | Destabilizing | 0.997 | D | 0.655 | neutral | None | None | None | None | N |
| T/H | 0.4302 | ambiguous | 0.3631 | ambiguous | -1.045 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/I | 0.3515 | ambiguous | 0.2887 | benign | -0.311 | Destabilizing | 0.999 | D | 0.791 | deleterious | N | 0.499137959 | None | None | N |
| T/K | 0.4629 | ambiguous | 0.3696 | ambiguous | -0.458 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| T/L | 0.1561 | likely_benign | 0.1372 | benign | -0.311 | Destabilizing | 0.998 | D | 0.652 | neutral | None | None | None | None | N |
| T/M | 0.1196 | likely_benign | 0.1049 | benign | -0.033 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/N | 0.1693 | likely_benign | 0.1394 | benign | -0.247 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.474966863 | None | None | N |
| T/P | 0.1426 | likely_benign | 0.1155 | benign | -0.387 | Destabilizing | 0.999 | D | 0.789 | deleterious | N | 0.480411367 | None | None | N |
| T/Q | 0.3686 | ambiguous | 0.2966 | benign | -0.484 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/R | 0.4504 | ambiguous | 0.3602 | ambiguous | -0.17 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/S | 0.1213 | likely_benign | 0.103 | benign | -0.538 | Destabilizing | 0.905 | D | 0.324 | neutral | N | 0.484561016 | None | None | N |
| T/V | 0.2326 | likely_benign | 0.2025 | benign | -0.387 | Destabilizing | 0.998 | D | 0.538 | neutral | None | None | None | None | N |
| T/W | 0.7643 | likely_pathogenic | 0.7339 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/Y | 0.4902 | ambiguous | 0.4413 | ambiguous | -0.695 | Destabilizing | 1.0 | D | 0.795 | 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.