Structural position:
- Domain Type: Ig
- Aligned Position: 39
- Secondary Structure Element: e
- Secondary Structure Region: β-strand B
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | 9925 |
Ig-84 |
26 | None | 0.9676 | None | 1.0 | None | 0.746 | 0.498 | 0.872484263163 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31253E-06 | 0 | 0 |
| I/V | 9925 |
Ig-84 |
26 | None | 0.3683 | None | 0.993 | None | 0.323 | 0.238 | 0.605179040742 | gnomAD-4.0.0 | 1.59695E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 0 | 0 |
| N/Y | 34161 |
Ig-160 |
25 | rs1278747931 |
0.4559 | -0.507 | 1.0 | D | 0.65 | 0.491 | 0.432266382184 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| N/Y | 34161 |
Ig-160 |
25 | rs1278747931 |
0.4559 | -0.507 | 1.0 | D | 0.65 | 0.491 | 0.432266382184 | gnomAD-4.0.0 | 3.18194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71543E-06 | 0 | 0 |
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.