Structural position:

  • Domain Type: Fn3
  • Aligned Position: 74
  • 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
E/A 19735 Fn3-31 56 rs769852851 0.1319 -0.345 0.896 N 0.464 0.197 0.366466682447 gnomAD-4.0.0 9.57999E-06 None None None None N None 0 0 None 0 0 None 0 0 1.25941E-05 0 0
E/D 20425 Fn3-36 55 rs1252644947 0.1014 0.112 0.001 N 0.143 0.044 0.12205267543 gnomAD-2.1.1 1.21E-05 None None None None I None 0 0 None 0 1.67954E-04 None 0 None 0 0 0
E/D 20425 Fn3-36 55 rs1252644947 0.1014 0.112 0.001 N 0.143 0.044 0.12205267543 gnomAD-4.0.0 6.37196E-06 None None None None I None 0 0 None 0 1.11191E-04 None 0 0 0 0 0
E/G 20425 Fn3-36 55 rs1471584816 0.2182 -0.264 0.521 N 0.435 0.294 0.289847578895 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.6E-05 None 0 None 0 0 0
E/G 20425 Fn3-36 55 rs1471584816 0.2182 -0.264 0.521 N 0.435 0.294 0.289847578895 gnomAD-4.0.0 1.59294E-06 None None None None I None 0 0 None 0 2.77994E-05 None 0 0 0 0 0
A/T 21123 Fn3-41 60 rs754944741 0.0867 -0.3 0.925 N 0.322 0.258 0.253726318573 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/T 21123 Fn3-41 60 rs754944741 0.0867 -0.3 0.925 N 0.322 0.258 0.253726318573 gnomAD-4.0.0 1.59292E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43345E-05 0
H/N 21812 Fn3-46 56 rs267599042 0.0834 0.009 0.189 N 0.163 0.079 0.124217242631 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
H/N 21812 Fn3-46 56 rs267599042 0.0834 0.009 0.189 N 0.163 0.079 0.124217242631 gnomAD-4.0.0 3.19077E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86405E-06 0 3.03288E-05
Q/E 22210 Fn3-49 55 None 0.0697 None None N 0.062 0.098 0.115124310173 gnomAD-4.0.0 1.59349E-06 None None None None N None 0 0 None 0 2.78847E-05 None 0 0 0 0 0
Q/K 22210 Fn3-49 55 rs757047748 0.0671 -0.329 None N 0.064 0.113 0.0762999501168 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
Q/K 22210 Fn3-49 55 rs757047748 0.0671 -0.329 None N 0.064 0.113 0.0762999501168 gnomAD-4.0.0 3.18699E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72397E-06 0 0
A/T 24377 Fn3-65 55 None 0.0671 None 0.001 N 0.124 0.128 0.0611884634855 gnomAD-4.0.0 4.80129E-06 None None None None I None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
T/I 27624 Fn3-89 55 rs1001331770 0.192 None 0.497 N 0.423 0.315 0.353974658523 gnomAD-4.0.0 1.59145E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
G/E 29788 Fn3-105 55 rs1700219498 0.1959 None 0.032 N 0.386 0.241 0.162503812791 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/E 29788 Fn3-105 55 rs1700219498 0.1959 None 0.032 N 0.386 0.241 0.162503812791 gnomAD-4.0.0 6.57203E-06 None None None None I None 2.41348E-05 0 None 0 0 None 0 0 0 0 0
G/R 29788 Fn3-105 55 rs761199633 0.3664 -0.187 0.942 N 0.626 0.294 0.488407942198 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
G/R 29788 Fn3-105 55 rs761199633 0.3664 -0.187 0.942 N 0.626 0.294 0.488407942198 gnomAD-4.0.0 3.18227E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.86549E-05 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.