Structural position:
- Domain Type: Ig
- Aligned Position: 95
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | 17313 |
Ig-112 |
63 | rs372927085 |
0.1045 | None | 0.003 | N | 0.621 | 0.178 | None | gnomAD-4.0.0 | 3.42407E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50001E-06 | 0 | 0 |
| P/Q | 17313 |
Ig-112 |
63 | None | 0.112 | -0.328 | 0.879 | N | 0.769 | 0.202 | 0.313518423057 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/Q | 17313 |
Ig-112 |
63 | None | 0.112 | -0.328 | 0.879 | N | 0.769 | 0.202 | 0.313518423057 | gnomAD-4.0.0 | 1.36963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80001E-06 | 0 | 0 |
| P/R | 17313 |
Ig-112 |
63 | rs372927085 |
0.1374 | 0.114 | 0.782 | N | 0.781 | 0.214 | 0.36036328697 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| P/R | 17313 |
Ig-112 |
63 | rs372927085 |
0.1374 | 0.114 | 0.782 | N | 0.781 | 0.214 | 0.36036328697 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | 17313 |
Ig-112 |
63 | rs372927085 |
0.1374 | 0.114 | 0.782 | N | 0.781 | 0.214 | 0.36036328697 | gnomAD-4.0.0 | 4.34205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08894E-06 | 1.09912E-05 | 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.