Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5343 | 16252;16253;16254 | chr2:178733266;178733265;178733264 | chr2:179597993;179597992;179597991 |
| N2AB | 5026 | 15301;15302;15303 | chr2:178733266;178733265;178733264 | chr2:179597993;179597992;179597991 |
| N2A | 4099 | 12520;12521;12522 | chr2:178733266;178733265;178733264 | chr2:179597993;179597992;179597991 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs369132752  |
-0.487 | 0.991 | D | 0.573 | 0.441 | 0.699250644755 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.38E-05 | None | 0 | 0 | 0 |
| S/C | rs369132752 |
-0.487 | 0.991 | D | 0.573 | 0.441 | 0.699250644755 | gnomAD-4.0.0 | 6.8702E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1722E-05 | 0 |
| S/F | rs369132752 |
-1.108 | 0.966 | N | 0.619 | 0.445 | 0.781284177001 | gnomAD-2.1.1 | 2.88E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.90059E-04 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs369132752 |
-1.108 | 0.966 | N | 0.619 | 0.445 | 0.781284177001 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.71605E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs369132752 |
-1.108 | 0.966 | N | 0.619 | 0.445 | 0.781284177001 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/F | rs369132752 |
-1.108 | 0.966 | N | 0.619 | 0.445 | 0.781284177001 | gnomAD-4.0.0 | 8.70708E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.12333E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | 0.891 | D | 0.603 | 0.45 | 0.442672919754 | gnomAD-4.0.0 | 3.21087E-06 | None | None | None | None | N | None | 0 | 4.5977E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.081 | likely_benign | 0.0812 | benign | -0.33 | Destabilizing | 0.005 | N | 0.155 | neutral | N | 0.5084583 | None | None | N |
| S/C | 0.1131 | likely_benign | 0.1198 | benign | -0.31 | Destabilizing | 0.991 | D | 0.573 | neutral | D | 0.548087079 | None | None | N |
| S/D | 0.4469 | ambiguous | 0.4825 | ambiguous | 0.174 | Stabilizing | 0.525 | D | 0.546 | neutral | None | None | None | None | N |
| S/E | 0.4834 | ambiguous | 0.5052 | ambiguous | 0.088 | Stabilizing | 0.029 | N | 0.181 | neutral | None | None | None | None | N |
| S/F | 0.123 | likely_benign | 0.1382 | benign | -0.895 | Destabilizing | 0.966 | D | 0.619 | neutral | N | 0.521082054 | None | None | N |
| S/G | 0.1414 | likely_benign | 0.1429 | benign | -0.453 | Destabilizing | 0.525 | D | 0.544 | neutral | None | None | None | None | N |
| S/H | 0.2228 | likely_benign | 0.2597 | benign | -0.932 | Destabilizing | 0.974 | D | 0.592 | neutral | None | None | None | None | N |
| S/I | 0.127 | likely_benign | 0.1297 | benign | -0.14 | Destabilizing | 0.949 | D | 0.631 | neutral | None | None | None | None | N |
| S/K | 0.4417 | ambiguous | 0.47 | ambiguous | -0.464 | Destabilizing | 0.525 | D | 0.551 | neutral | None | None | None | None | N |
| S/L | 0.091 | likely_benign | 0.0918 | benign | -0.14 | Destabilizing | 0.842 | D | 0.585 | neutral | None | None | None | None | N |
| S/M | 0.1936 | likely_benign | 0.1969 | benign | 0.011 | Stabilizing | 0.991 | D | 0.591 | neutral | None | None | None | None | N |
| S/N | 0.1602 | likely_benign | 0.1698 | benign | -0.204 | Destabilizing | 0.915 | D | 0.495 | neutral | None | None | None | None | N |
| S/P | 0.7502 | likely_pathogenic | 0.7526 | pathogenic | -0.174 | Destabilizing | 0.891 | D | 0.603 | neutral | D | 0.547580099 | None | None | N |
| S/Q | 0.3633 | ambiguous | 0.3896 | ambiguous | -0.431 | Destabilizing | 0.08 | N | 0.166 | neutral | None | None | None | None | N |
| S/R | 0.321 | likely_benign | 0.3562 | ambiguous | -0.267 | Destabilizing | 0.842 | D | 0.577 | neutral | None | None | None | None | N |
| S/T | 0.0757 | likely_benign | 0.0745 | benign | -0.297 | Destabilizing | 0.625 | D | 0.532 | neutral | N | 0.509025104 | None | None | N |
| S/V | 0.1363 | likely_benign | 0.1364 | benign | -0.174 | Destabilizing | 0.728 | D | 0.572 | neutral | None | None | None | None | N |
| S/W | 0.2684 | likely_benign | 0.3239 | benign | -0.912 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| S/Y | 0.1399 | likely_benign | 0.1544 | benign | -0.621 | Destabilizing | 0.989 | D | 0.615 | neutral | N | 0.513600089 | 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.