Structural position:
- Domain Type: Ig
- Aligned Position: 37
- Secondary Structure Element: e
- Secondary Structure Region: β-strand B
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 | 1728 |
Ig-8 |
26 | rs371837040 |
0.9738 | -0.189 | 1.0 | D | 0.749 | 0.788 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/L | 1728 |
Ig-8 |
26 | rs371837040 |
0.9738 | -0.189 | 1.0 | D | 0.749 | 0.788 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | 1728 |
Ig-8 |
26 | rs371837040 |
0.9738 | -0.189 | 1.0 | D | 0.749 | 0.788 | None | gnomAD-4.0.0 | 3.84214E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17532E-06 | 0 | 0 |
| S/R | 35309 |
Ig-165 |
24 | rs558833547 |
0.6694 | -0.142 | 0.999 | N | 0.748 | 0.348 | 0.332646915603 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/R | 35309 |
Ig-165 |
24 | rs558833547 |
0.6694 | -0.142 | 0.999 | N | 0.748 | 0.348 | 0.332646915603 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/T | 35309 |
Ig-165 |
24 | None | 0.1097 | None | 0.997 | D | 0.535 | 0.297 | 0.340753184043 | gnomAD-4.0.0 | 1.59092E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85758E-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.