Structural position:
- Domain Type: Ig
- Aligned Position: 110
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | 35942 |
Ig-169 |
46 | rs2154129874 |
0.0909 | None | 0.106 | N | 0.327 | 0.293 | 0.33835085245 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.331(OBSL1) -0.335(OBSCN) | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | 35942 |
Ig-169 |
46 | rs2154129874 |
0.0909 | None | 0.106 | N | 0.327 | 0.293 | 0.33835085245 | gnomAD-4.0.0 | 6.56461E-06 | None | None | None | -0.331(OBSL1) -0.335(OBSCN) | N | None | 0 | 0 | None | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 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.