Structural position:

  • Domain Type: Fn3
  • Aligned Position: 24
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand B

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
W/L 15678 Fn3-1 22 None 0.9894 None 0.025 D 0.688 0.685 0.82672435233 gnomAD-4.0.0 1.59404E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86257E-06 0 0
W/C 15779 Fn3-2 22 None 0.9982 None 1.0 D 0.821 0.825 0.823096669049 gnomAD-4.0.0 1.36939E-06 None None None None N None 2.99383E-05 0 None 0 0 None 0 0 0 0 1.65848E-05
W/L 15779 Fn3-2 22 None 0.9727 None 1.0 D 0.832 0.807 0.863506238786 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
W/R 15779 Fn3-2 22 rs1350573127 0.9993 -2.147 1.0 D 0.899 0.918 0.869005348214 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
W/R 15779 Fn3-2 22 rs1350573127 0.9993 -2.147 1.0 D 0.899 0.918 0.869005348214 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.57E-05 0 0 0 None 0 0 0 0 0
W/R 15779 Fn3-2 22 rs1350573127 0.9993 -2.147 1.0 D 0.899 0.918 0.869005348214 gnomAD-4.0.0 6.84686E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99905E-07 0 0
W/R 16176 Fn3-5 22 rs752645675 0.9998 -2.164 1.0 D 0.909 0.912 0.904166217823 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
W/R 16176 Fn3-5 22 rs752645675 0.9998 -2.164 1.0 D 0.909 0.912 0.904166217823 gnomAD-4.0.0 3.18748E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43398E-05 3.03049E-05
W/C 16471 Fn3-7 22 rs202094100 0.9989 -1.763 1.0 D 0.859 0.74 0.906534809592 gnomAD-2.1.1 3.877E-04 None None None None N None 4.14E-05 1.4228E-04 None 9.74E-05 0 None 0 None 4.82664E-04 6.51481E-04 8.47218E-04
W/C 16471 Fn3-7 22 rs202094100 0.9989 -1.763 1.0 D 0.859 0.74 0.906534809592 gnomAD-3.1.2 3.75217E-04 None None None None N None 9.66E-05 1.31354E-04 0 0 0 None 3.77003E-04 0 6.91868E-04 0 0
W/C 16471 Fn3-7 22 rs202094100 0.9989 -1.763 1.0 D 0.859 0.74 0.906534809592 Rees (2021) None MmD comp het with R17337* None None N Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro (Tm 32 degrees lower than WT) None None None None None None None None None None None
W/C 16471 Fn3-7 22 rs202094100 0.9989 -1.763 1.0 D 0.859 0.74 0.906534809592 gnomAD-4.0.0 6.85013E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00163E-07 0 0
W/C 16772 Fn3-10 22 rs1433307898 0.9993 -1.994 1.0 D 0.852 0.61 0.529561333529 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 6.59631E-04 None 0 None 0 0 0
W/R 17068 Fn3-12 22 rs2056011998 0.9998 None 1.0 D 0.912 0.874 0.831283644108 gnomAD-4.0.0 1.59329E-06 None None None None N None 0 0 None 0 2.78133E-05 None 0 0 0 0 0
W/S 17068 Fn3-12 22 None 0.9986 None 1.0 D 0.888 0.865 0.868941280685 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
W/C 17883 Fn3-18 22 rs774663244 0.9993 -2.181 1.0 D 0.839 0.875 0.889997138036 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
W/C 17883 Fn3-18 22 rs774663244 0.9993 -2.181 1.0 D 0.839 0.875 0.889997138036 gnomAD-4.0.0 1.59915E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4393E-05 0
W/R 17883 Fn3-18 22 None 0.9998 None 1.0 D 0.907 0.92 0.910700704267 gnomAD-4.0.0 1.59817E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87254E-06 0 0
W/C 18187 Fn3-20 22 rs2054184713 0.9946 None 1.0 D 0.818 0.669 0.707629541401 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
W/C 18187 Fn3-20 22 rs2054184713 0.9946 None 1.0 D 0.818 0.669 0.707629541401 gnomAD-4.0.0 6.58042E-06 None None None None N None 2.41453E-05 0 None 0 0 None 0 0 0 0 0
W/G 18187 Fn3-20 22 rs796392077 0.9834 -3.32 1.0 D 0.82 0.831 0.765374676318 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14837E-04 0 None 0 0 None 0 None 0 0 0
W/G 18187 Fn3-20 22 rs796392077 0.9834 -3.32 1.0 D 0.82 0.831 0.765374676318 gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
W/G 18187 Fn3-20 22 rs796392077 0.9834 -3.32 1.0 D 0.82 0.831 0.765374676318 gnomAD-4.0.0 3.04529E-06 None None None None N None 5.24347E-05 0 None 0 0 None 0 0 0 0 0
W/C 18806 Fn3-24 23 rs1042225014 0.9949 -1.201 0.997 D 0.838 0.799 0.629801484396 gnomAD-2.1.1 4.34E-06 None None None None N None 0 0 None 0 5.9E-05 None 0 None 0 0 0
W/C 18806 Fn3-24 23 rs1042225014 0.9949 -1.201 0.997 D 0.838 0.799 0.629801484396 gnomAD-4.0.0 1.63607E-06 None None None None N None 0 0 None 0 2.80065E-05 None 0 0 0 0 0
W/L 18806 Fn3-24 23 None 0.9704 None 0.822 D 0.847 0.822 0.840916574304 gnomAD-4.0.0 6.92739E-07 None None None None N None 0 0 None 0 0 None 0 0 9.04593E-07 0 0
W/R 18905 Fn3-25 22 rs1488040834 0.9997 -2.048 1.0 D 0.893 0.772 0.930856625603 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.11E-06 0
W/R 18905 Fn3-25 22 rs1488040834 0.9997 -2.048 1.0 D 0.893 0.772 0.930856625603 gnomAD-4.0.0 3.19706E-06 None None None None N None 0 0 None 0 0 None 0 0 5.73819E-06 0 0
W/R 19205 Fn3-27 23 rs2154188330 0.9993 None 1.0 D 0.905 0.871 0.928116393999 gnomAD-4.0.0 3.43056E-06 None None None None N None 2.99204E-05 0 None 0 0 None 0 0 2.70241E-06 0 1.6603E-05
W/S 19205 Fn3-27 23 rs772966626 0.9872 -3.297 1.0 D 0.867 0.756 0.892380040629 gnomAD-4.0.0 6.86173E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.17559E-05 0
W/S 19305 Fn3-28 22 None 0.9992 None 1.0 D 0.864 0.744 0.899350334792 gnomAD-4.0.0 1.36913E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99802E-07 0 1.65744E-05
W/C 19600 Fn3-30 22 rs2050664676 0.9984 None 1.0 D 0.879 0.662 0.712387037076 gnomAD-4.0.0 2.73762E-06 None None None None N None 0 0 None 0 0 None 0 1.73491E-04 2.69885E-06 0 0
W/C 19898 Fn3-32 22 rs750948166 0.9987 -1.798 1.0 D 0.851 0.765 0.854387073164 gnomAD-2.1.1 4.09E-06 None None None None N None 0 0 None 0 0 None 3.3E-05 None 0 0 0
W/C 19898 Fn3-32 22 rs750948166 0.9987 -1.798 1.0 D 0.851 0.765 0.854387073164 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.15973E-04 0
W/C 19898 Fn3-32 22 rs750948166 0.9987 -1.798 1.0 D 0.851 0.765 0.854387073164 gnomAD-4.0.0 6.42084E-06 None None None None N None 0 0 None 0 0 None 0 0 2.39756E-06 5.37577E-05 0
W/R 19898 Fn3-32 22 rs1415408093 0.9996 -2.26 1.0 D 0.911 0.905 0.903899350074 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14705E-04 0 None 0 0 None 0 None 0 0 0
W/R 19898 Fn3-32 22 rs1415408093 0.9996 -2.26 1.0 D 0.911 0.905 0.903899350074 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
W/R 19898 Fn3-32 22 rs1415408093 0.9996 -2.26 1.0 D 0.911 0.905 0.903899350074 gnomAD-4.0.0 6.57557E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
W/R 20193 Fn3-34 23 None 0.999 None 1.0 D 0.904 0.88 0.920677696357 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
W/C 20292 Fn3-35 22 rs397517647 0.9946 -1.865 1.0 D 0.849 0.732 0.846365063961 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
W/C 20292 Fn3-35 22 rs397517647 0.9946 -1.865 1.0 D 0.849 0.732 0.846365063961 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
W/C 20292 Fn3-35 22 rs397517647 0.9946 -1.865 1.0 D 0.849 0.732 0.846365063961 gnomAD-4.0.0 6.57713E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47085E-05 0 0
W/R 20292 Fn3-35 22 rs748357485 0.9987 -2.234 1.0 D 0.916 0.878 0.928046224802 gnomAD-2.1.1 1.61E-05 None None None None N None 0 5.81E-05 None 0 5.61E-05 None 0 None 0 8.92E-06 0
W/R 20292 Fn3-35 22 rs748357485 0.9987 -2.234 1.0 D 0.916 0.878 0.928046224802 gnomAD-4.0.0 6.85888E-07 None None None None N None 0 0 None 0 0 None 0 0 9.01786E-07 0 0
W/S 20292 Fn3-35 22 rs781605494 0.9906 -3.364 1.0 D 0.896 0.722 0.94278514832 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
W/S 20292 Fn3-35 22 rs781605494 0.9906 -3.364 1.0 D 0.896 0.722 0.94278514832 gnomAD-4.0.0 3.20161E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88291E-06 0 3.04044E-05
W/G 20392 Fn3-36 22 rs778062181 0.9947 -3.639 1.0 D 0.843 0.886 0.822295905232 gnomAD-2.1.1 6.47E-05 None None None None N None 0 0 None 0 0 None 5.26593E-04 None 0 0 0
W/G 20392 Fn3-36 22 rs778062181 0.9947 -3.639 1.0 D 0.843 0.886 0.822295905232 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 0 6.21118E-04 0
W/G 20392 Fn3-36 22 rs778062181 0.9947 -3.639 1.0 D 0.843 0.886 0.822295905232 gnomAD-4.0.0 2.97671E-05 None None None None N None 0 0 None 0 0 None 0 0 0 5.28157E-04 0
W/G 21085 Fn3-41 22 None 0.9768 None 1.0 D 0.825 0.831 0.691340492799 gnomAD-4.0.0 1.20039E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31257E-06 0 0
W/R 21287 Fn3-42 22 None 0.999 None 1.0 D 0.928 0.857 0.878025301495 gnomAD-4.0.0 1.59661E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86553E-06 0 0
W/C 21387 Fn3-43 22 None 0.9982 None 1.0 D 0.808 0.76 0.893464030288 gnomAD-4.0.0 1.59276E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43324E-05 0
W/R 21581 Fn3-44 23 rs1455212617 0.9996 -2.244 1.0 D 0.898 0.781 0.915394152485 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
W/R 21581 Fn3-44 23 rs1455212617 0.9996 -2.244 1.0 D 0.898 0.781 0.915394152485 gnomAD-4.0.0 1.11459E-05 None None None None N None 0 0 None 0 0 None 0 0 5.71997E-06 7.16538E-05 0
W/S 21977 Fn3-47 22 None 0.9988 None 1.0 D 0.889 0.871 0.953264484425 gnomAD-4.0.0 6.84578E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99826E-07 0 0
W/L 22177 Fn3-49 22 None 0.9887 None 1.0 D 0.875 0.828 0.931053846008 gnomAD-4.0.0 1.60362E-06 None None None None N None 0 0 None 0 0 None 1.89372E-05 0 0 0 0
W/R 22375 Fn3-50 22 None 0.9995 None 1.0 D 0.893 0.87 0.911217961243 gnomAD-4.0.0 6.84437E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99677E-07 0 0
W/C 23061 Fn3-55 22 None 0.9986 None 1.0 D 0.849 0.825 0.906862694034 gnomAD-4.0.0 2.05337E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69905E-06 0 0
W/R 23061 Fn3-55 22 None 0.9996 None 1.0 D 0.906 0.909 0.928520047526 gnomAD-4.0.0 1.59258E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86051E-06 0 0
W/C 23160 Fn3-56 22 rs1428157842 0.9973 -1.923 1.0 D 0.879 0.801 0.833144392332 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
W/C 23160 Fn3-56 22 rs1428157842 0.9973 -1.923 1.0 D 0.879 0.801 0.833144392332 gnomAD-3.1.2 6.58E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
W/C 23160 Fn3-56 22 rs1428157842 0.9973 -1.923 1.0 D 0.879 0.801 0.833144392332 gnomAD-4.0.0 6.57748E-06 None None None None N None 2.41511E-05 0 None 0 0 None 0 0 0 0 0
W/R 23160 Fn3-56 22 None 0.9993 None 1.0 D 0.923 0.865 0.911059217484 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
W/G 23553 Fn3-59 22 None 0.9817 None 1.0 D 0.851 0.813 0.862868373484 gnomAD-4.0.0 1.59155E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85894E-06 0 0
W/R 23748 Fn3-60 23 rs1319154983 0.9997 -2.158 1.0 D 0.92 0.896 0.878526340876 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.01E-06 0
W/C 23945 Fn3-62 22 rs1217858818 0.9991 -1.815 1.0 D 0.816 0.879 0.681649958028 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
W/C 23945 Fn3-62 22 rs1217858818 0.9991 -1.815 1.0 D 0.816 0.879 0.681649958028 gnomAD-4.0.0 1.592E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85928E-06 0 0
W/R 23945 Fn3-62 22 rs553796385 0.9995 -2.075 1.0 D 0.88 0.871 0.92505512226 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.30804E-04 None 0 0 0
W/R 23945 Fn3-62 22 rs553796385 0.9995 -2.075 1.0 D 0.88 0.871 0.92505512226 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.14422E-04 0
W/R 23945 Fn3-62 22 rs553796385 0.9995 -2.075 1.0 D 0.88 0.871 0.92505512226 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
W/R 23945 Fn3-62 22 rs553796385 0.9995 -2.075 1.0 D 0.88 0.871 0.92505512226 gnomAD-4.0.0 5.578E-06 None None None None N None 0 0 None 0 0 None 0 0 0 9.88381E-05 0
W/C 24144 Fn3-63 23 None 0.9944 None 1.0 D 0.859 0.747 0.813413921934 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
W/R 24144 Fn3-63 23 rs554779387 0.999 -2.315 1.0 D 0.909 0.873 0.913760290019 gnomAD-2.1.1 5.31E-06 None None None None N None 0 0 None 0 0 None 6.11E-05 None 0 0 0
W/R 24144 Fn3-63 23 rs554779387 0.999 -2.315 1.0 D 0.909 0.873 0.913760290019 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.06868E-04 0
W/R 24144 Fn3-63 23 rs554779387 0.999 -2.315 1.0 D 0.909 0.873 0.913760290019 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
W/R 24144 Fn3-63 23 rs554779387 0.999 -2.315 1.0 D 0.909 0.873 0.913760290019 gnomAD-4.0.0 1.82183E-06 None None None None N None 0 0 None 0 0 None 0 0 3.20174E-06 0 0
W/R 24243 Fn3-64 22 None 0.9988 None 1.0 D 0.913 0.862 0.932455764754 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 1.3125E-06 0 0
W/C 24344 Fn3-65 22 None 0.9987 None 1.0 D 0.845 0.738 0.862546450212 gnomAD-4.0.0 1.59238E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85999E-06 0 0
W/L 24344 Fn3-65 22 None 0.9928 None 1.0 D 0.86 0.711 0.91742934021 gnomAD-4.0.0 1.59234E-06 None None None None N None 0 0 None 0 2.78242E-05 None 0 0 0 0 0
W/G 24540 Fn3-66 22 rs564995755 0.9946 -3.804 1.0 D 0.811 0.851 0.640427019709 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
W/G 24540 Fn3-66 22 rs564995755 0.9946 -3.804 1.0 D 0.811 0.851 0.640427019709 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
W/G 24540 Fn3-66 22 rs564995755 0.9946 -3.804 1.0 D 0.811 0.851 0.640427019709 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
W/G 24540 Fn3-66 22 rs564995755 0.9946 -3.804 1.0 D 0.811 0.851 0.640427019709 gnomAD-4.0.0 6.56918E-06 None None None None N None 0 6.54365E-05 None 0 0 None 0 0 0 0 0
W/R 24540 Fn3-66 22 None 0.9999 None 1.0 D 0.867 0.834 0.914327042773 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
W/C 24830 Fn3-68 23 None 0.9987 None 1.0 D 0.861 0.785 0.870754901542 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
W/R 24929 Fn3-69 22 None 0.9996 None 0.994 D 0.905 0.845 0.899303468351 gnomAD-4.0.0 1.59199E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85972E-06 0 0
W/C 25325 Fn3-72 22 rs746749916 0.9982 -1.706 1.0 D 0.877 0.813 0.862623283075 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.30762E-04 None 0 0 0
W/C 25325 Fn3-72 22 rs746749916 0.9982 -1.706 1.0 D 0.877 0.813 0.862623283075 gnomAD-4.0.0 1.43262E-05 None None None None N None 0 0 None 0 0 None 0 0 0 1.28966E-04 0
W/R 25325 Fn3-72 22 rs1707625464 0.9996 None 1.0 D 0.921 0.848 0.945312082423 gnomAD-4.0.0 1.3686E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99565E-07 0 1.65689E-05
W/S 25426 Fn3-73 22 None 0.9918 None 1.0 D 0.872 0.795 0.865666249806 gnomAD-4.0.0 1.59191E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0259E-05
W/R 25622 Fn3-74 22 None 0.9997 None 1.0 D 0.916 0.861 0.905808349657 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
W/C 25719 Fn3-75 22 rs1707088255 0.9991 None 1.0 D 0.847 0.858 0.83828980565 gnomAD-4.0.0 1.32035E-05 None None None None N None 0 0 None 0 0 None 0 0 1.44375E-05 0 0
W/G 25719 Fn3-75 22 None 0.9908 None 1.0 D 0.847 0.868 0.870675680197 gnomAD-4.0.0 6.84347E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15972E-05 0
W/R 25719 Fn3-75 22 None 0.9997 None 1.0 D 0.914 0.877 0.897805669097 gnomAD-4.0.0 6.84347E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99607E-07 0 0
W/C 25912 Fn3-76 23 rs759946219 0.9987 -1.873 1.0 D 0.883 0.867 0.847646856092 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
W/C 25912 Fn3-76 23 rs759946219 0.9987 -1.873 1.0 D 0.883 0.867 0.847646856092 gnomAD-4.0.0 1.59264E-06 None None None None N None 0 2.28948E-05 None 0 0 None 0 0 0 0 0
W/C 26011 Fn3-77 22 None 0.9989 None 1.0 D 0.875 0.879 0.903653336386 gnomAD-4.0.0 1.59208E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43308E-05 0
W/S 26308 Fn3-79 23 rs1201085993 0.9966 -3.363 0.967 D 0.897 0.758 0.936706721517 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.98E-06 0
W/S 26308 Fn3-79 23 rs1201085993 0.9966 -3.363 0.967 D 0.897 0.758 0.936706721517 gnomAD-4.0.0 1.59931E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87285E-06 0 0
W/R 26407 Fn3-80 22 rs1018970512 0.9995 -2.26 1.0 D 0.903 0.92 0.920412695238 gnomAD-2.1.1 5.24E-05 None None None None N None 0 3.76943E-04 None 0 0 None 0 None 0 0 0
W/R 26407 Fn3-80 22 rs1018970512 0.9995 -2.26 1.0 D 0.903 0.92 0.920412695238 gnomAD-3.1.2 1.24882E-04 None None None None N None 0 1.24606E-03 0 0 0 None 0 0 0 0 0
W/R 26407 Fn3-80 22 rs1018970512 0.9995 -2.26 1.0 D 0.903 0.92 0.920412695238 gnomAD-4.0.0 4.10026E-05 None None None None N None 0 5.42667E-04 None 0 0 None 0 0 0 0 0
W/C 26508 Fn3-81 22 rs765149776 0.9959 -1.41 1.0 D 0.837 0.854 0.900464351087 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
W/C 26508 Fn3-81 22 rs765149776 0.9959 -1.41 1.0 D 0.837 0.854 0.900464351087 gnomAD-4.0.0 1.59441E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85894E-06 0 0
W/L 26704 Fn3-82 22 rs780184497 0.9827 -2.631 1.0 D 0.875 0.854 0.88135197578 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
W/L 26704 Fn3-82 22 rs780184497 0.9827 -2.631 1.0 D 0.875 0.854 0.88135197578 gnomAD-4.0.0 1.59186E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85953E-06 0 0
W/R 26801 Fn3-83 22 None 0.9994 None 1.0 D 0.892 0.839 0.89825893883 gnomAD-4.0.0 1.59168E-06 None None None None N None 0 0 None 0 0 None 0 2.41429E-04 0 0 0
W/C 27093 Fn3-85 22 None 0.9986 None 0.056 D 0.744 0.806 0.842507524372 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
W/L 27093 Fn3-85 22 rs758518537 0.9909 -2.815 0.805 D 0.843 0.705 0.940321820105 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
W/L 27093 Fn3-85 22 rs758518537 0.9909 -2.815 0.805 D 0.843 0.705 0.940321820105 gnomAD-4.0.0 1.59282E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43538E-05 0
W/C 27191 Fn3-86 22 rs267599035 0.9994 None 1.0 D 0.847 0.65 0.895607803642 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
W/R 27391 Fn3-87 23 rs778983249 0.9993 -2.451 1.0 D 0.89 0.819 0.906596067141 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
W/R 27391 Fn3-87 23 rs778983249 0.9993 -2.451 1.0 D 0.89 0.819 0.906596067141 gnomAD-4.0.0 4.78965E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39703E-06 1.15939E-05 0
W/R 27490 Fn3-88 22 rs757683923 0.999 -2.348 1.0 D 0.913 0.809 0.943719225583 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 4.64E-05 8.87E-06 0
W/R 27490 Fn3-88 22 rs757683923 0.999 -2.348 1.0 D 0.913 0.809 0.943719225583 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 9.43E-05 0 0 0 0
W/R 27490 Fn3-88 22 rs757683923 0.999 -2.348 1.0 D 0.913 0.809 0.943719225583 gnomAD-4.0.0 2.73679E-06 None None None None N None 0 0 None 0 0 None 1.87259E-05 0 8.99475E-07 1.15937E-05 1.65651E-05
W/S 27490 Fn3-88 22 None 0.9926 None 1.0 D 0.892 0.734 0.960035691554 gnomAD-4.0.0 1.59121E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85834E-06 0 0
W/C 28175 Fn3-93 22 rs886042366 0.9975 -1.887 1.0 D 0.842 0.774 0.783269768591 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
W/C 28175 Fn3-93 22 rs886042366 0.9975 -1.887 1.0 D 0.842 0.774 0.783269768591 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
W/C 28175 Fn3-93 22 rs886042366 0.9975 -1.887 1.0 D 0.842 0.774 0.783269768591 gnomAD-4.0.0 2.56478E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78955E-06 0 0
W/C 28273 Fn3-94 22 rs72648222 0.9987 None 1.0 D 0.823 0.862 0.717260364112 gnomAD-4.0.0 2.40064E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 3.66327E-05
W/R 28571 Fn3-96 22 None 0.9978 None 0.982 D 0.88 0.83 0.8918447195 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 3.66327E-05
W/S 28571 Fn3-96 22 None 0.9878 None 0.322 D 0.74 0.617 0.871759669856 gnomAD-4.0.0 6.84259E-07 None None None None N None 0 0 None 0 2.52283E-05 None 0 0 0 0 0
W/S 28866 Fn3-98 22 rs779438420 0.9961 -3.301 1.0 D 0.896 0.804 0.951749564368 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
W/S 28866 Fn3-98 22 rs779438420 0.9961 -3.301 1.0 D 0.896 0.804 0.951749564368 gnomAD-4.0.0 3.18275E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71719E-06 0 0
W/S 29555 Fn3-103 23 None 0.9956 None 1.0 D 0.868 0.842 0.899195765859 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
W/C 29755 Fn3-105 22 None 0.9972 None 1.0 D 0.87 0.857 0.881156160365 gnomAD-4.0.0 2.0534E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79935E-06 0 1.65706E-05
W/C 30345 Fn3-109 22 None 0.9971 None 1.0 D 0.853 0.829 0.826212153317 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
W/R 30345 Fn3-109 22 None 0.9994 None 1.0 D 0.912 0.869 0.901594544835 gnomAD-4.0.0 1.59108E-06 None None None None N None 0 0 None 4.7669E-05 0 None 0 0 0 0 0
W/R 30443 Fn3-110 22 rs1396920730 0.9998 -2.362 1.0 D 0.919 0.925 0.868951155756 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
W/R 30443 Fn3-110 22 rs1396920730 0.9998 -2.362 1.0 D 0.919 0.925 0.868951155756 gnomAD-4.0.0 3.18375E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86599E-05 0
W/R 30740 Fn3-112 22 None 0.9993 None 1.0 D 0.931 0.914 0.936591070797 gnomAD-4.0.0 1.59165E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
W/C 30842 Fn3-113 22 None 0.9973 None 1.0 D 0.857 0.884 0.902338567141 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
W/G 31330 Fn3-116 23 None 0.9831 None 1.0 D 0.847 0.903 0.700608386612 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
W/S 31330 Fn3-116 23 rs879156764 0.9943 None 1.0 D 0.895 0.77 None gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
W/S 31330 Fn3-116 23 rs879156764 0.9943 None 1.0 D 0.895 0.77 None gnomAD-4.0.0 6.57203E-06 None None None None N None 2.41278E-05 0 None 0 0 None 0 0 0 0 0
W/C 31429 Fn3-117 22 None 0.9989 None 1.0 D 0.844 0.772 0.887746986894 gnomAD-4.0.0 1.59132E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85858E-06 0 0
W/R 31429 Fn3-117 22 None 0.9997 -1.936 1.0 D 0.913 0.861 0.906553756881 Evila (2016) None TMD comp het with R21209* None None N Genetic analysis of genes in 10 TMD families; co-segregation in 2-generation family (recessive inheritance, n = 3, 1 affected (total 5; disease state only where compound heterozygous for both W31429R and R21209*)); variant prioritisation; comp het with R21209* None None None None None None None None None None None
W/R 31429 Fn3-117 22 None 0.9997 -1.936 1.0 D 0.913 0.861 0.906553756881 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 1.01626E-03 None 0 0 None 0 0 0 0 0
W/L 31527 Fn3-118 22 rs758317232 0.9931 -2.654 1.0 D 0.855 0.711 0.940224394109 gnomAD-2.1.1 4.09E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
W/C 31729 Fn3-119 22 rs869320742 0.9937 -1.772 1.0 D 0.865 0.956 0.905035043352 Palmio (2013) Hedberg (2014) Bugiardini (2018) Palmio (2019) None HMERF het None None N WES/WGS prioritisation in 12 HMERF families; dominant effect, full penetrance (n = 2, 2 affected (total 4)); Genetic analysis of genes in 12 HMERF families (n = 4, 4 affected) None None None None None None None None None None None
W/C 31729 Fn3-119 22 rs869320742 0.9937 -1.772 1.0 D 0.865 0.956 0.905035043352 gnomAD-4.0.0 6.1583E-06 None None None None N None 0 0 None 0 0 None 0 0 8.09561E-06 0 0
W/L 31729 Fn3-119 22 rs786205367 0.9589 -2.41 1.0 D 0.851 0.903 0.947208517384 Izumi (2013) None MFM HMERF het None None N Genetic analysis of single JP family; co-segregates within family (n = 5, 5 affected (total 10)); linkage analysis; not found in ethnic controls None None None None None None None None None None None
W/R 31729 Fn3-119 22 rs869320741 0.999 -2.066 1.0 D 0.917 0.934 0.922935033018 Palmio (2013) Hedberg (2014) Huang (2021) None HMERF het None None N WES/WGS prioritisation in 12 HMERF families; dominant effect, unknown penetrance None None None None None None None None None None None
W/C 31930 Fn3-121 22 None 0.9978 None 1.0 D 0.865 0.644 0.895514612685 gnomAD-4.0.0 1.59159E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
W/C 32126 Fn3-122 22 rs794729542 0.9974 None 1.0 D 0.835 0.834 0.820208211037 gnomAD-4.0.0 6.8766E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.6581E-05
W/C 32223 Fn3-123 22 None 0.9914 None 1.0 D 0.759 0.854 0.820976921018 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
W/C 32421 Fn3-124 23 None 0.9979 None 1.0 D 0.842 0.743 0.909722871612 gnomAD-4.0.0 3.1876E-06 None None None None N None 0 0 None 0 2.77762E-05 None 0 0 0 1.43332E-05 0
W/L 32520 Fn3-125 22 rs1694490172 0.967 None 1.0 D 0.873 0.871 0.934092718198 gnomAD-4.0.0 2.73824E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59904E-06 0 0
W/C 32918 Fn3-128 23 rs1428429290 0.9987 -1.538 1.0 D 0.792 0.627 0.851109372804 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
W/C 33019 Fn3-129 22 None 0.9981 None 1.0 D 0.853 0.7 0.826632325508 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 6.17284E-04 0 0 0
W/R 33413 Fn3-131 22 None 0.9995 None 1.0 D 0.897 0.888 0.923459033944 gnomAD-4.0.0 1.43003E-06 None None None None N None 0 0 None 0 0 None 0 0 1.84717E-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.