Structural position:

  • Domain Type: Fn3
  • Aligned Position: 51
  • 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/A 16198 Fn3-5 44 None 0.4144 None 1.0 N 0.545 0.39 0.304435445954 gnomAD-4.0.0 1.36946E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80002E-06 0 0
N/D 17512 Fn3-15 43 rs528550177 0.5725 0.39 0.896 N 0.43 0.323 0.244539031024 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 1.47E-05 0 0
N/D 17512 Fn3-15 43 rs528550177 0.5725 0.39 0.896 N 0.43 0.323 0.244539031024 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
N/D 17512 Fn3-15 43 rs528550177 0.5725 0.39 0.896 N 0.43 0.323 0.244539031024 gnomAD-4.0.0 3.85025E-06 None None None None N None 0 1.69774E-05 None 0 0 None 0 0 2.39676E-06 0 2.84933E-05
N/I 17512 Fn3-15 43 rs1446942544 0.7479 0.242 0.984 N 0.586 0.535 0.546780063783 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
N/I 17512 Fn3-15 43 rs1446942544 0.7479 0.242 0.984 N 0.586 0.535 0.546780063783 gnomAD-4.0.0 1.5946E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43505E-05 0
N/K 17512 Fn3-15 43 rs199615557 0.8072 0.483 0.026 N 0.278 0.1 0.0666544352282 gnomAD-2.1.1 3.23732E-04 None None None None N None 8.3E-05 0 None 0 0 None 0 None 0 6.93186E-04 0
N/K 17512 Fn3-15 43 rs199615557 0.8072 0.483 0.026 N 0.278 0.1 0.0666544352282 gnomAD-3.1.2 3.48905E-04 None None None None N None 1.93283E-04 1.31251E-04 0 0 0 None 9.43E-05 0 6.18284E-04 0 0
N/K 17512 Fn3-15 43 rs199615557 0.8072 0.483 0.026 N 0.278 0.1 0.0666544352282 gnomAD-4.0.0 5.21035E-04 None None None None N None 1.20112E-04 5.01169E-05 None 0 0 None 7.82669E-05 0 6.88657E-04 0 1.76322E-04
N/S 17512 Fn3-15 43 rs1446942544 0.1845 0.266 0.896 N 0.455 0.318 0.228597637076 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
N/S 17512 Fn3-15 43 rs1446942544 0.1845 0.266 0.896 N 0.455 0.318 0.228597637076 gnomAD-4.0.0 1.5946E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03196E-05
G/E 19031 Fn3-26 44 rs1064797275 0.1963 None 0.999 N 0.686 0.335 0.445711490874 gnomAD-4.0.0 2.75129E-06 None None None None N None 1.2147E-04 0 None 0 0 None 0 0 0 0 0
G/R 19031 Fn3-26 44 rs1347090797 0.4894 None 0.999 N 0.707 0.343 0.545957683197 gnomAD-2.1.1 4.12E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.99E-06 0
G/R 19031 Fn3-26 44 rs1347090797 0.4894 None 0.999 N 0.707 0.343 0.545957683197 gnomAD-4.0.0 1.60758E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8712E-06 0 0
E/K 21409 Fn3-43 44 None 0.2346 None 0.055 N 0.213 0.199 0.229264304666 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-06 0 0
G/A 24659 Fn3-67 44 rs548189007 0.272 -0.135 0.994 N 0.488 0.296 0.292787519742 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
G/A 24659 Fn3-67 44 rs548189007 0.272 -0.135 0.994 N 0.488 0.296 0.292787519742 gnomAD-4.0.0 1.16342E-05 None None None None N None 2.39106E-04 0 None 0 0 None 0 0 0 3.47858E-05 9.94365E-05
G/S 24659 Fn3-67 44 rs776423108 0.149 -0.408 0.987 N 0.493 0.298 None gnomAD-2.1.1 1.21E-05 None None None None N None 1.94099E-04 0 None 0 0 None 0 None 0 0 0
G/S 24659 Fn3-67 44 rs776423108 0.149 -0.408 0.987 N 0.493 0.298 None 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/S 24659 Fn3-67 44 rs776423108 0.149 -0.408 0.987 N 0.493 0.298 None gnomAD-4.0.0 1.97213E-05 None None None None N None 7.23833E-05 0 None 0 0 None 0 0 0 0 0
H/Y 25741 Fn3-75 44 rs756616171 0.0816 0.781 0.065 N 0.309 0.127 0.214338557667 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
H/Y 25741 Fn3-75 44 rs756616171 0.0816 0.781 0.065 N 0.309 0.127 0.214338557667 gnomAD-4.0.0 2.73763E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.63865E-05 0
G/A 26823 Fn3-83 44 rs114071241 0.2593 -0.085 1.0 N 0.512 0.511 None gnomAD-2.1.1 1.21E-05 None None None None N None 1.93849E-04 0 None 0 0 None 0 None 0 0 0
G/A 26823 Fn3-83 44 rs114071241 0.2593 -0.085 1.0 N 0.512 0.511 None 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/A 26823 Fn3-83 44 rs114071241 0.2593 -0.085 1.0 N 0.512 0.511 None 1000 genomes 3.99361E-04 None None None None N None 1.5E-03 0 None None 0 0 None None None 0 None
G/A 26823 Fn3-83 44 rs114071241 0.2593 -0.085 1.0 N 0.512 0.511 None gnomAD-4.0.0 6.19748E-06 None None None None N None 1.20016E-04 0 None 0 0 None 0 0 8.47716E-07 0 0
G/E 26823 Fn3-83 44 None 0.2534 None 1.0 N 0.644 0.558 0.422762650823 gnomAD-4.0.0 6.84268E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99559E-07 0 0
G/R 26823 Fn3-83 44 None 0.6235 None 1.0 N 0.664 0.6 0.52674250279 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
G/R 28985 Fn3-99 44 rs748946057 0.4747 -0.432 1.0 N 0.629 0.449 0.565168447923 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14784E-04 0 None 0 0 None 0 None 0 0 0
G/R 28985 Fn3-99 44 rs748946057 0.4747 -0.432 1.0 N 0.629 0.449 0.565168447923 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
G/R 28985 Fn3-99 44 rs748946057 0.4747 -0.432 1.0 N 0.629 0.449 0.565168447923 gnomAD-4.0.0 1.59129E-06 None None None None N None 5.65291E-05 0 None 0 0 None 0 0 0 0 0
S/G 31549 Fn3-118 44 rs1202729127 0.0725 -1.133 0.201 N 0.369 0.118 0.15556083564 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
S/G 31549 Fn3-118 44 rs1202729127 0.0725 -1.133 0.201 N 0.369 0.118 0.15556083564 gnomAD-4.0.0 1.5914E-06 None None None None N None 0 2.28666E-05 None 0 0 None 0 0 0 0 0
S/I 31549 Fn3-118 44 None 0.2286 None 0.896 N 0.347 0.182 0.352910780287 gnomAD-4.0.0 1.59138E-06 None None None None N None 0 0 None 0 0 None 1.88239E-05 0 0 0 0
S/N 31549 Fn3-118 44 rs1697358835 0.0979 None 0.002 N 0.071 0.086 0.141422826196 gnomAD-4.0.0 1.59138E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85858E-06 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.