Structural position:
- Domain Type: Fn3
- Aligned Position: 45
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | 16793 |
Fn3-10 |
43 | rs1446626288 |
0.0589 | -0.266 | None | N | 0.171 | 0.139 | 0.144782658237 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| R/K | 16793 |
Fn3-10 |
43 | rs1446626288 |
0.0589 | -0.266 | None | N | 0.171 | 0.139 | 0.144782658237 | gnomAD-4.0.0 | 1.59566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86346E-06 | 0 | 0 |
| V/L | 17511 |
Fn3-15 |
42 | rs1446269783 |
0.3343 | -0.462 | 0.063 | N | 0.155 | 0.069 | 0.30921473904 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | 17511 |
Fn3-15 |
42 | rs1446269783 |
0.3343 | -0.462 | 0.063 | N | 0.155 | 0.069 | 0.30921473904 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 17511 |
Fn3-15 |
42 | rs1446269783 |
0.3343 | -0.462 | 0.063 | N | 0.155 | 0.069 | 0.30921473904 | gnomAD-4.0.0 | 6.41858E-06 | None | None | None | None | N | None | 1.69405E-05 | 0 | None | 0 | 0 | None | 0 | 2.24719E-04 | 4.79345E-06 | 1.34239E-05 | 0 |
| W/R | 18621 |
Fn3-23 |
43 | rs969457022 |
0.8708 | -0.743 | 1.0 | N | 0.833 | 0.539 | 0.552900881131 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| W/R | 18621 |
Fn3-23 |
43 | rs969457022 |
0.8708 | -0.743 | 1.0 | N | 0.833 | 0.539 | 0.552900881131 | gnomAD-4.0.0 | 3.1859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55741E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | 20710 |
Fn3-38 |
43 | None | 0.2066 | None | 1.0 | N | 0.683 | 0.416 | 0.309839678437 | 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 |
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.