Structural position:
- Domain Type: Fn3
- Aligned Position: 87
- 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/F | 18944 |
Fn3-25 |
61 | rs778351310 |
0.2106 | -0.56 | 1.0 | N | 0.675 | 0.254 | 0.451882325854 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| L/F | 18944 |
Fn3-25 |
61 | rs778351310 |
0.2106 | -0.56 | 1.0 | N | 0.675 | 0.254 | 0.451882325854 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07814E-04 | 0 |
| L/F | 18944 |
Fn3-25 |
61 | rs778351310 |
0.2106 | -0.56 | 1.0 | N | 0.675 | 0.254 | 0.451882325854 | gnomAD-4.0.0 | 6.19929E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.88511E-05 | 1.60149E-05 |
| L/S | 18944 |
Fn3-25 |
61 | None | 0.4112 | None | 1.0 | N | 0.651 | 0.463 | 0.785456996267 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-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.