Structural position:
- Domain Type: Ig
- Aligned Position: 97
- 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/A | 17315 |
Ig-112 |
65 | rs1338519299 |
0.142 | None | 0.003 | N | 0.245 | 0.044 | 0.282575091529 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 17315 |
Ig-112 |
65 | rs1338519299 |
0.142 | None | 0.003 | N | 0.245 | 0.044 | 0.282575091529 | gnomAD-4.0.0 | 3.04559E-06 | None | None | None | None | N | None | 3.49638E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40321E-05 |
| V/F | 17315 |
Ig-112 |
65 | rs778099881 |
0.1103 | -0.636 | None | N | 0.189 | 0.114 | 0.128392430309 | 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 |
| V/F | 17315 |
Ig-112 |
65 | rs778099881 |
0.1103 | -0.636 | None | N | 0.189 | 0.114 | 0.128392430309 | gnomAD-4.0.0 | 1.36963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80003E-06 | 0 | 0 |
| V/I | 17315 |
Ig-112 |
65 | rs778099881 |
0.0762 | -0.845 | None | N | 0.14 | 0.06 | 0.0954503805726 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 8.28E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| V/I | 17315 |
Ig-112 |
65 | rs778099881 |
0.0762 | -0.845 | None | N | 0.14 | 0.06 | 0.0954503805726 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| V/I | 17315 |
Ig-112 |
65 | rs778099881 |
0.0762 | -0.845 | None | N | 0.14 | 0.06 | 0.0954503805726 | gnomAD-4.0.0 | 8.68408E-06 | None | None | None | None | N | None | 5.34759E-05 | 1.66934E-05 | None | 0 | 0 | None | 0 | 1.6469E-04 | 6.78535E-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.