Structural position:
- Domain Type: Ig
- Aligned Position: 32
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | 22968 |
Ig-128 |
19 | None | 0.9858 | None | 1.0 | N | 0.868 | 0.674 | 0.646332412001 | gnomAD-4.0.0 | 1.37144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80159E-06 | 0 | 0 |
| A/V | 22968 |
Ig-128 |
19 | rs1331232420 |
0.4176 | 0.307 | 1.0 | N | 0.777 | 0.404 | 0.423954403188 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14969E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | 22968 |
Ig-128 |
19 | rs1331232420 |
0.4176 | 0.307 | 1.0 | N | 0.777 | 0.404 | 0.423954403188 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 22968 |
Ig-128 |
19 | rs1331232420 |
0.4176 | 0.307 | 1.0 | N | 0.777 | 0.404 | 0.423954403188 | gnomAD-4.0.0 | 1.24213E-06 | None | None | None | None | N | None | 1.33733E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48842E-07 | 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.