Structural position:

  • Domain Type: Fn3
  • Aligned Position: 78
  • 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
P/T 16807 Fn3-10 57 rs1294894885 0.1761 -0.416 1.0 N 0.699 0.348 0.32580497728 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
P/T 16807 Fn3-10 57 rs1294894885 0.1761 -0.416 1.0 N 0.699 0.348 0.32580497728 gnomAD-4.0.0 1.59335E-06 None None None None N None 0 2.28927E-05 None 0 0 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.