Structural position:

  • Domain Type: Fn3
  • Aligned Position: 101
  • 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
G/R 15725 Fn3-1 69 rs1344306392 0.4369 -0.658 0.999 D 0.83 0.539 0.690963032294 gnomAD-2.1.1 4.03E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
G/R 15725 Fn3-1 69 rs1344306392 0.4369 -0.658 0.999 D 0.83 0.539 0.690963032294 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/R 15725 Fn3-1 69 rs1344306392 0.4369 -0.658 0.999 D 0.83 0.539 0.690963032294 gnomAD-4.0.0 2.56567E-06 None None None None N None 1.69417E-05 0 None 0 0 None 0 0 2.3966E-06 0 0
G/V 15725 Fn3-1 69 rs776647163 0.2901 -0.653 1.0 D 0.793 0.489 0.681401495644 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
G/V 15725 Fn3-1 69 rs776647163 0.2901 -0.653 1.0 D 0.793 0.489 0.681401495644 gnomAD-4.0.0 1.59337E-06 None None None None N None 0 2.28885E-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.