Structural position:

  • Domain Type: Ig
  • Aligned Position: 120
  • 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/E 18018 Ig-114 51 rs2054476187 0.1424 None 0.117 N 0.421 0.242 0.269111216191 gnomAD-4.0.0 1.27475E-05 None None None None N None 0 0 None 0 2.22692E-04 None 0 0 0 0 0
K/M 18018 Ig-114 51 rs368425364 0.2102 0.319 0.484 N 0.524 0.192 None gnomAD-2.1.1 8.61E-05 None None None None N None 0 0 None 0 0 None 0 None 1.19971E-04 1.49576E-04 2.81928E-04
K/M 18018 Ig-114 51 rs368425364 0.2102 0.319 0.484 N 0.524 0.192 None gnomAD-3.1.2 7.9E-05 None None None None N None 2.41E-05 0 0 0 0 None 9.41E-05 0 1.47184E-04 0 0
K/M 18018 Ig-114 51 rs368425364 0.2102 0.319 0.484 N 0.524 0.192 None gnomAD-4.0.0 8.92918E-05 None None None None N None 1.33643E-05 0 None 0 0 None 1.40616E-04 0 1.06849E-04 0 1.28189E-04

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.