Structural position:
- Domain Type: Ig
- Aligned Position: 27
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/V | 2191 |
Ig-11 |
18 | rs760003993 |
0.1415 | -0.008 | 0.45 | N | 0.408 | 0.341 | 0.418221603839 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.84E-06 | 0 |
| M/V | 2191 |
Ig-11 |
18 | rs760003993 |
0.1415 | -0.008 | 0.45 | N | 0.408 | 0.341 | 0.418221603839 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| M/V | 2191 |
Ig-11 |
18 | rs760003993 |
0.1415 | -0.008 | 0.45 | N | 0.408 | 0.341 | 0.418221603839 | gnomAD-4.0.0 | 4.33728E-06 | None | None | None | None | N | None | 1.33494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38986E-06 | 1.09791E-05 | 1.60041E-05 |
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.