Structural position:
- Domain Type: Ig
- Aligned Position: 103
- Secondary Structure Element:
- Secondary Structure Region:
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/R | 51 |
Ig-1 |
46 | rs868419744 |
0.4515 | -1.321 | 1.0 | N | 0.687 | 0.6 | 0.798374310559 | gnomAD-2.1.1 | 7.07E-06 | None | None | None | -0.898(TCAP) | N | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/R | 51 |
Ig-1 |
46 | rs868419744 |
0.4515 | -1.321 | 1.0 | N | 0.687 | 0.6 | 0.798374310559 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.898(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | 51 |
Ig-1 |
46 | rs868419744 |
0.4515 | -1.321 | 1.0 | N | 0.687 | 0.6 | 0.798374310559 | gnomAD-4.0.0 | 3.09775E-06 | None | None | None | -0.898(TCAP) | N | None | 5.33718E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60036E-05 |
| L/V | 51 |
Ig-1 |
46 | None | 0.1323 | None | 0.996 | N | 0.505 | 0.369 | 0.574195325796 | gnomAD-4.0.0 | 6.84068E-07 | None | None | None | -0.693(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99292E-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.