Structural position:
- Domain Type: Ig
- Aligned Position: 129
- Secondary Structure Element: e
- Secondary Structure Region: β-strand D
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | 3517 |
Ig-25 |
53 | None | 0.2544 | None | None | None | None | 0.124 | None | gnomAD-4.0.0 | 6.84192E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 0 | 0 |
| S/C | 17327 |
Ig-112 |
77 | None | 0.129 | None | 0.997 | N | 0.417 | 0.411 | 0.433600339574 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/I | 17327 |
Ig-112 |
77 | rs1447002596 |
0.2202 | -0.26 | 0.966 | D | 0.451 | 0.27 | 0.510407551169 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| S/I | 17327 |
Ig-112 |
77 | rs1447002596 |
0.2202 | -0.26 | 0.966 | D | 0.451 | 0.27 | 0.510407551169 | gnomAD-4.0.0 | 1.37366E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80242E-06 | 0 | 0 |
| S/N | 17327 |
Ig-112 |
77 | rs1447002596 |
0.1308 | None | 0.051 | N | 0.216 | 0.08 | 0.222439326576 | 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 |
| S/N | 17327 |
Ig-112 |
77 | rs1447002596 |
0.1308 | None | 0.051 | N | 0.216 | 0.08 | 0.222439326576 | gnomAD-4.0.0 | 1.24391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69846E-06 | 0 | 0 |
| S/R | 17327 |
Ig-112 |
77 | rs1244227970 |
0.2694 | None | 0.028 | N | 0.244 | 0.286 | 0.154104182512 | gnomAD-4.0.0 | 1.60947E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87848E-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.