Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7786 | 23581;23582;23583 | chr2:178720406;178720405;178720404 | chr2:179585133;179585132;179585131 |
| N2AB | 7469 | 22630;22631;22632 | chr2:178720406;178720405;178720404 | chr2:179585133;179585132;179585131 |
| N2A | 6542 | 19849;19850;19851 | chr2:178720406;178720405;178720404 | chr2:179585133;179585132;179585131 |
| 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/Y | rs794729628  |
-0.324 | 0.033 | N | 0.537 | 0.149 | 0.334161072951 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/Y | rs794729628 |
-0.324 | 0.033 | N | 0.537 | 0.149 | 0.334161072951 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/Y | rs794729628 |
-0.324 | 0.033 | N | 0.537 | 0.149 | 0.334161072951 | gnomAD-4.0.0 | 7.6957E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43755E-05 | 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 | 0.0749 | likely_benign | 0.0663 | benign | -0.47 | Destabilizing | None | N | 0.123 | neutral | N | 0.51331899 | None | None | N |
| S/C | 0.1249 | likely_benign | 0.1025 | benign | -0.145 | Destabilizing | 0.196 | N | 0.535 | neutral | N | 0.511891795 | None | None | N |
| S/D | 0.2855 | likely_benign | 0.2452 | benign | -0.618 | Destabilizing | 0.018 | N | 0.385 | neutral | None | None | None | None | N |
| S/E | 0.3474 | ambiguous | 0.3023 | benign | -0.653 | Destabilizing | 0.004 | N | 0.363 | neutral | None | None | None | None | N |
| S/F | 0.0919 | likely_benign | 0.0817 | benign | -0.671 | Destabilizing | 0.017 | N | 0.553 | neutral | N | 0.4890146 | None | None | N |
| S/G | 0.1048 | likely_benign | 0.0854 | benign | -0.695 | Destabilizing | 0.004 | N | 0.361 | neutral | None | None | None | None | N |
| S/H | 0.1827 | likely_benign | 0.1769 | benign | -1.288 | Destabilizing | None | N | 0.293 | neutral | None | None | None | None | N |
| S/I | 0.0657 | likely_benign | 0.0558 | benign | 0.02 | Stabilizing | 0.001 | N | 0.465 | neutral | None | None | None | None | N |
| S/K | 0.3727 | ambiguous | 0.326 | benign | -0.895 | Destabilizing | None | N | 0.154 | neutral | None | None | None | None | N |
| S/L | 0.0684 | likely_benign | 0.0585 | benign | 0.02 | Stabilizing | None | N | 0.329 | neutral | None | None | None | None | N |
| S/M | 0.117 | likely_benign | 0.096 | benign | 0.403 | Stabilizing | 0.138 | N | 0.56 | neutral | None | None | None | None | N |
| S/N | 0.1037 | likely_benign | 0.0881 | benign | -0.646 | Destabilizing | 0.018 | N | 0.397 | neutral | None | None | None | None | N |
| S/P | 0.2336 | likely_benign | 0.2221 | benign | -0.111 | Destabilizing | 0.014 | N | 0.482 | neutral | N | 0.493280561 | None | None | N |
| S/Q | 0.2939 | likely_benign | 0.2515 | benign | -0.833 | Destabilizing | None | N | 0.147 | neutral | None | None | None | None | N |
| S/R | 0.2904 | likely_benign | 0.2522 | benign | -0.719 | Destabilizing | 0.009 | N | 0.465 | neutral | None | None | None | None | N |
| S/T | 0.0684 | likely_benign | 0.0603 | benign | -0.592 | Destabilizing | None | N | 0.139 | neutral | N | 0.43703172 | None | None | N |
| S/V | 0.0752 | likely_benign | 0.061 | benign | -0.111 | Destabilizing | None | N | 0.313 | neutral | None | None | None | None | N |
| S/W | 0.2383 | likely_benign | 0.2192 | benign | -0.729 | Destabilizing | 0.497 | N | 0.601 | neutral | None | None | None | None | N |
| S/Y | 0.123 | likely_benign | 0.1129 | benign | -0.49 | Destabilizing | 0.033 | N | 0.537 | neutral | N | 0.486786101 | 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.