Structural position:

  • Domain Type: Fn3
  • Aligned Position: 57
  • 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
A/E 21110 Fn3-41 47 None 0.1255 None 0.002 N 0.245 0.103 0.163833314356 gnomAD-4.0.0 1.36913E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79962E-06 0 0
A/G 21110 Fn3-41 47 rs370687831 0.0859 -0.318 0.058 N 0.381 0.041 0.12205267543 gnomAD-2.1.1 1.43E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.14E-05 0
A/G 21110 Fn3-41 47 rs370687831 0.0859 -0.318 0.058 N 0.381 0.041 0.12205267543 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
A/G 21110 Fn3-41 47 rs370687831 0.0859 -0.318 0.058 N 0.381 0.041 0.12205267543 gnomAD-4.0.0 8.06084E-06 None None None None N None 0 1.6685E-05 None 0 0 None 0 0 1.01755E-05 0 0
A/T 21110 Fn3-41 47 None 0.0633 None None N 0.262 0.101 0.124217242631 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
A/V 21110 Fn3-41 47 rs370687831 0.074 -0.133 0.064 N 0.38 0.049 None gnomAD-2.1.1 1.36044E-04 None None None None N None 4.14E-05 8.5E-05 None 0 0 None 0 None 0 2.66629E-04 0
A/V 21110 Fn3-41 47 rs370687831 0.074 -0.133 0.064 N 0.38 0.049 None gnomAD-3.1.2 8.56E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.4715E-04 2.07211E-04 0
A/V 21110 Fn3-41 47 rs370687831 0.074 -0.133 0.064 N 0.38 0.049 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
A/V 21110 Fn3-41 47 rs370687831 0.074 -0.133 0.064 N 0.38 0.049 None gnomAD-4.0.0 1.22144E-04 None None None None N None 5.33575E-05 5.00384E-05 None 0 0 None 0 0 1.55177E-04 3.2954E-05 6.40697E-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.