Structural position:

  • Domain Type: Fn3
  • Aligned Position: 73
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand C'

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
D/E 18326 Fn3-21 55 None 0.0899 None 0.619 N 0.311 0.074 0.299086750705 gnomAD-4.0.0 1.59353E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86202E-06 0 0
D/G 18326 Fn3-21 55 None 0.0798 None 0.996 N 0.585 0.435 0.313818047136 gnomAD-4.0.0 1.59352E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43349E-05 0
D/N 18326 Fn3-21 55 rs1553675887 0.0735 None 0.999 N 0.679 0.359 0.270447802918 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
P/A 19734 Fn3-31 55 rs563889482 0.0768 -0.124 0.117 N 0.375 0.194 0.183819452728 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
P/A 19734 Fn3-31 55 rs563889482 0.0768 -0.124 0.117 N 0.375 0.194 0.183819452728 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 1.94326E-04 None 0 0 0 0 0
P/A 19734 Fn3-31 55 rs563889482 0.0768 -0.124 0.117 N 0.375 0.194 0.183819452728 gnomAD-4.0.0 6.58181E-06 None None None None I None 0 0 None 0 1.94326E-04 None 0 0 0 0 0
P/S 19734 Fn3-31 55 rs563889482 0.2494 -0.004 0.987 N 0.604 0.245 0.268660756437 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.89E-06 0
P/S 19734 Fn3-31 55 rs563889482 0.2494 -0.004 0.987 N 0.604 0.245 0.268660756437 gnomAD-4.0.0 3.42142E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59835E-06 1.15939E-05 0
P/S 21811 Fn3-46 55 rs1424664692 0.1424 -0.136 0.136 N 0.2 0.13 0.213573922156 gnomAD-2.1.1 4.06E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.98E-06 0
P/S 21811 Fn3-46 55 rs1424664692 0.1424 -0.136 0.136 N 0.2 0.13 0.213573922156 gnomAD-4.0.0 1.37006E-06 None None None None I None 0 0 None 0 0 None 0 0 1.80013E-06 0 0
Y/C 31861 Fn3-120 55 rs59148238 0.0883 -0.006 0.915 N 0.487 0.208 None gnomAD-2.1.1 2.8891E-04 None None None None N None 3.14102E-03 2.83E-05 None 0 0 None 0 None 0 1.56E-05 2.80269E-04
Y/C 31861 Fn3-120 55 rs59148238 0.0883 -0.006 0.915 N 0.487 0.208 None gnomAD-3.1.2 8.28152E-04 None None None None N None 2.89519E-03 1.31044E-04 0 0 0 None 0 3.16456E-03 1.47E-05 0 9.5511E-04
Y/C 31861 Fn3-120 55 rs59148238 0.0883 -0.006 0.915 N 0.487 0.208 None 1000 genomes 1.19808E-03 None None None None N None 4.5E-03 0 None None 0 0 None None None 0 None
Y/C 31861 Fn3-120 55 rs59148238 0.0883 -0.006 0.915 N 0.487 0.208 None gnomAD-4.0.0 1.87768E-04 None None None None N None 3.57209E-03 6.66644E-05 None 0 0 None 0 3.30251E-04 7.62921E-06 0 3.20133E-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.