Structural position:

  • Domain Type: Ig
  • Aligned Position: 96
  • 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
F/I 17314 Ig-112 64 None 0.1648 None 0.971 N 0.701 0.272 0.388010793773 gnomAD-4.0.0 6.84811E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00017E-07 0 0
F/L 17314 Ig-112 64 None 0.7262 None 0.822 N 0.663 0.193 0.219573609325 gnomAD-4.0.0 6.84811E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00017E-07 0 0
F/S 17314 Ig-112 64 None 0.237 None 0.89 N 0.735 0.248 0.561332866315 gnomAD-4.0.0 1.59451E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86367E-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.