Structural position:

  • Domain Type: Fn3
  • Aligned Position: 59
  • 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/L 21112 Fn3-41 49 rs758801950 0.0913 -0.333 1.0 N 0.806 0.424 0.602534368506 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
P/L 21112 Fn3-41 49 rs758801950 0.0913 -0.333 1.0 N 0.806 0.424 0.602534368506 gnomAD-4.0.0 4.79173E-05 None None None None N None 0 0 None 0 0 None 0 0 6.02849E-05 0 4.97282E-05

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.