Structural position:
- Domain Type: Ig
- Aligned Position: 79
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | 17297 |
Ig-112 |
47 | None | 0.1299 | None | None | N | 0.288 | 0.106 | 0.0716867268079 | gnomAD-4.0.0 | 6.84822E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00004E-07 | 0 | 0 |
| A/G | 17297 |
Ig-112 |
47 | rs776392928 |
0.1072 | None | 0.014 | N | 0.333 | 0.041 | 0.0551355673512 | gnomAD-4.0.0 | 6.84822E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00004E-07 | 0 | 0 |
| A/T | 17297 |
Ig-112 |
47 | None | 0.0784 | None | None | N | 0.253 | 0.096 | 0.0716867268079 | gnomAD-4.0.0 | 1.36965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99998E-07 | 0 | 1.65915E-05 |
| A/V | 17297 |
Ig-112 |
47 | rs776392928 |
0.0783 | -0.205 | None | N | 0.213 | 0.082 | 0.0666544352282 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | 17297 |
Ig-112 |
47 | rs776392928 |
0.0783 | -0.205 | None | N | 0.213 | 0.082 | 0.0666544352282 | 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 |
| A/V | 17297 |
Ig-112 |
47 | rs776392928 |
0.0783 | -0.205 | None | N | 0.213 | 0.082 | 0.0666544352282 | gnomAD-4.0.0 | 2.10903E-05 | None | None | None | None | N | None | 1.33686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.79895E-05 | 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.