Structural position:

  • Domain Type: Ig
  • Aligned Position: 62
  • 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
K/N 18423 Ig-115 42 rs367799017 0.5004 0.061 1.0 N 0.658 0.267 0.171388866994 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
K/N 18423 Ig-115 42 rs367799017 0.5004 0.061 1.0 N 0.658 0.267 0.171388866994 gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 5.89E-05 0 0
K/N 18423 Ig-115 42 rs367799017 0.5004 0.061 1.0 N 0.658 0.267 0.171388866994 gnomAD-4.0.0 8.68232E-06 None None None None N None 0 0 None 0 0 None 0 0 1.18727E-05 0 0
K/R 18423 Ig-115 42 rs752722625 0.0931 -0.203 0.999 N 0.565 0.164 0.218845423259 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.7E-05 None 0 0 None 0 None 0 0 0
K/R 18423 Ig-115 42 rs752722625 0.0931 -0.203 0.999 N 0.565 0.164 0.218845423259 gnomAD-4.0.0 4.78037E-06 None None None None N None 0 6.86467E-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.