Structural position:
- Domain Type: Ig
- Aligned Position: 83
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | 17301 |
Ig-112 |
51 | rs775005250 |
0.1209 | -0.602 | None | N | 0.227 | 0.074 | 0.582449840715 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | 17301 |
Ig-112 |
51 | rs377029308 |
0.0996 | -0.272 | 0.012 | N | 0.383 | 0.134 | None | 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 |
| V/G | 17301 |
Ig-112 |
51 | rs377029308 |
0.0996 | -0.272 | 0.012 | N | 0.383 | 0.134 | None | gnomAD-4.0.0 | 6.58605E-06 | None | None | None | None | N | None | 2.41779E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 17301 |
Ig-112 |
51 | rs775005250 |
0.0803 | -0.791 | None | N | 0.177 | 0.06 | 0.272205846399 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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.