Structural position:

  • Domain Type: Fn3
  • Aligned Position: 62
  • 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/V 16795 Fn3-10 45 None 0.7623 None 0.997 N 0.711 0.4 0.75671349718 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
D/E 17415 Fn3-14 47 rs2055542542 0.1212 None 0.006 N 0.115 0.039 0.216624796971 gnomAD-4.0.0 1.5939E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86226E-06 0 0
D/N 17415 Fn3-14 47 rs397517609 0.1068 -0.648 0.963 N 0.385 0.221 0.318828661733 gnomAD-2.1.1 4.84E-05 None None None None N None 0 0 None 0 5.64E-05 None 9.81E-05 None 0 7.12E-05 0
D/N 17415 Fn3-14 47 rs397517609 0.1068 -0.648 0.963 N 0.385 0.221 0.318828661733 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 1.94932E-04 None 0 0 1.47E-05 0 0
D/N 17415 Fn3-14 47 rs397517609 0.1068 -0.648 0.963 N 0.385 0.221 0.318828661733 gnomAD-4.0.0 1.3024E-05 None None None None N None 1.33643E-05 0 None 0 2.24175E-05 None 0 0 1.18726E-05 4.39367E-05 1.60298E-05
D/Y 17415 Fn3-14 47 rs397517609 0.2805 None 0.996 N 0.425 0.484 0.635084727198 gnomAD-4.0.0 6.84709E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99866E-07 0 0
K/T 18111 Fn3-19 47 rs2054379596 0.2788 None 0.117 N 0.313 0.116 0.221019684889 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
K/T 18111 Fn3-19 47 rs2054379596 0.2788 None 0.117 N 0.313 0.116 0.221019684889 gnomAD-4.0.0 6.57877E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
K/E 18628 Fn3-23 50 rs781398210 0.2266 0.125 0.999 N 0.589 0.425 0.374255764437 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
K/E 18628 Fn3-23 50 rs781398210 0.2266 0.125 0.999 N 0.589 0.425 0.374255764437 gnomAD-4.0.0 2.46413E-05 None None None None N None 0 0 None 0 0 None 0 0 3.14916E-05 0 1.65711E-05
K/R 18628 Fn3-23 50 rs747690782 0.101 -0.203 0.999 N 0.556 0.259 0.324986149311 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.30779E-04 None 0 0 0
K/R 18628 Fn3-23 50 rs747690782 0.101 -0.203 0.999 N 0.556 0.259 0.324986149311 gnomAD-4.0.0 4.79132E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.95959E-05 1.65711E-05
K/T 18628 Fn3-23 50 None 0.2758 None 1.0 N 0.629 0.457 0.430923071578 gnomAD-4.0.0 6.84475E-07 None None None None N None 0 0 None 0 2.52245E-05 None 0 0 0 0 0
A/S 21412 Fn3-43 47 None 0.0849 None 0.625 N 0.494 0.233 0.18274738541 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
D/N 33042 Fn3-129 45 None 0.1236 None 0.982 N 0.482 0.254 0.307966526162 gnomAD-4.0.0 4.77398E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57545E-06 0 0
G/R 33336 Fn3-130 47 rs757783646 0.3905 -0.245 1.0 N 0.729 0.631 0.555475725382 gnomAD-2.1.1 7.17E-06 None None None None N None 8.31E-05 0 None 0 0 None 0 None 0 0 0
G/R 33336 Fn3-130 47 rs757783646 0.3905 -0.245 1.0 N 0.729 0.631 0.555475725382 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
G/R 33336 Fn3-130 47 rs757783646 0.3905 -0.245 1.0 N 0.729 0.631 0.555475725382 gnomAD-4.0.0 4.05977E-06 None None None None N None 5.24292E-05 0 None 0 0 None 0 0 0 0 3.40252E-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.