Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27492 | 82699;82700;82701 | chr2:178563658;178563657;178563656 | chr2:179428385;179428384;179428383 |
| N2AB | 25851 | 77776;77777;77778 | chr2:178563658;178563657;178563656 | chr2:179428385;179428384;179428383 |
| N2A | 24924 | 74995;74996;74997 | chr2:178563658;178563657;178563656 | chr2:179428385;179428384;179428383 |
| N2B | 18427 | 55504;55505;55506 | chr2:178563658;178563657;178563656 | chr2:179428385;179428384;179428383 |
| Novex-1 | 18552 | 55879;55880;55881 | chr2:178563658;178563657;178563656 | chr2:179428385;179428384;179428383 |
| Novex-2 | 18619 | 56080;56081;56082 | chr2:178563658;178563657;178563656 | chr2:179428385;179428384;179428383 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs767221784  |
-0.26 | 0.159 | N | 0.424 | 0.246 | 0.516162830352 | gnomAD-2.1.1 | 2.85E-05 | None | None | None | None | N | None | 4.13E-05 | 1.13116E-04 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 1.56E-05 | 0 |
| R/C | rs767221784 |
-0.26 | 0.159 | N | 0.424 | 0.246 | 0.516162830352 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/C | rs767221784 |
-0.26 | 0.159 | N | 0.424 | 0.246 | 0.516162830352 | gnomAD-4.0.0 | 1.73528E-05 | None | None | None | None | N | None | 4.00716E-05 | 1.16729E-04 | None | 0 | 2.22975E-05 | None | 0 | 0 | 1.10191E-05 | 3.29381E-05 | 1.60097E-05 |
| R/G | None | None | 0.96 | N | 0.599 | 0.288 | 0.499473279415 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 0 | 0 |
| R/H | rs375752919 |
-1.118 | 1.0 | N | 0.619 | 0.319 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| R/H | rs375752919 |
-1.118 | 1.0 | N | 0.619 | 0.319 | None | gnomAD-4.0.0 | 6.15777E-06 | None | None | None | None | N | None | 5.9755E-05 | 0 | None | 0 | 2.51965E-05 | None | 0 | 0 | 4.49736E-06 | 1.15937E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5309 | ambiguous | 0.5047 | ambiguous | -0.357 | Destabilizing | 0.559 | D | 0.546 | neutral | None | None | None | None | N |
| R/C | 0.2291 | likely_benign | 0.2159 | benign | -0.747 | Destabilizing | 0.159 | N | 0.424 | neutral | N | 0.491714765 | None | None | N |
| R/D | 0.8728 | likely_pathogenic | 0.8564 | pathogenic | -0.846 | Destabilizing | 0.993 | D | 0.661 | neutral | None | None | None | None | N |
| R/E | 0.5524 | ambiguous | 0.5308 | ambiguous | -0.714 | Destabilizing | 0.926 | D | 0.609 | neutral | None | None | None | None | N |
| R/F | 0.7342 | likely_pathogenic | 0.7104 | pathogenic | -0.349 | Destabilizing | 0.956 | D | 0.67 | neutral | None | None | None | None | N |
| R/G | 0.512 | ambiguous | 0.4655 | ambiguous | -0.591 | Destabilizing | 0.96 | D | 0.599 | neutral | N | 0.516190645 | None | None | N |
| R/H | 0.1462 | likely_benign | 0.1339 | benign | -1.245 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.521481822 | None | None | N |
| R/I | 0.5287 | ambiguous | 0.5092 | ambiguous | 0.256 | Stabilizing | 0.915 | D | 0.606 | neutral | None | None | None | None | N |
| R/K | 0.1551 | likely_benign | 0.1451 | benign | -0.457 | Destabilizing | 0.926 | D | 0.59 | neutral | None | None | None | None | N |
| R/L | 0.4097 | ambiguous | 0.3873 | ambiguous | 0.256 | Stabilizing | 0.035 | N | 0.369 | neutral | N | 0.477116003 | None | None | N |
| R/M | 0.5248 | ambiguous | 0.4988 | ambiguous | -0.454 | Destabilizing | 0.956 | D | 0.667 | neutral | None | None | None | None | N |
| R/N | 0.8022 | likely_pathogenic | 0.792 | pathogenic | -0.685 | Destabilizing | 0.993 | D | 0.631 | neutral | None | None | None | None | N |
| R/P | 0.4297 | ambiguous | 0.3808 | ambiguous | 0.069 | Stabilizing | 0.996 | D | 0.667 | neutral | N | 0.429854166 | None | None | N |
| R/Q | 0.168 | likely_benign | 0.155 | benign | -0.564 | Destabilizing | 0.993 | D | 0.657 | neutral | None | None | None | None | N |
| R/S | 0.6882 | likely_pathogenic | 0.6724 | pathogenic | -0.869 | Destabilizing | 0.922 | D | 0.599 | neutral | N | 0.513785058 | None | None | N |
| R/T | 0.5676 | likely_pathogenic | 0.5525 | ambiguous | -0.576 | Destabilizing | 0.86 | D | 0.594 | neutral | None | None | None | None | N |
| R/V | 0.568 | likely_pathogenic | 0.5496 | ambiguous | 0.069 | Stabilizing | 0.754 | D | 0.599 | neutral | None | None | None | None | N |
| R/W | 0.3089 | likely_benign | 0.29 | benign | -0.435 | Destabilizing | 0.998 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/Y | 0.5447 | ambiguous | 0.5205 | ambiguous | -0.098 | Destabilizing | 0.978 | D | 0.667 | 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.