Structural position:

  • Domain Type: Fn3
  • Aligned Position: 106
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand F

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
F/L 15730 Fn3-1 74 rs2057713125 0.9942 None 0.999 D 0.685 0.501 0.486779940545 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
F/L 15730 Fn3-1 74 rs2057713125 0.9942 None 0.999 D 0.685 0.501 0.486779940545 gnomAD-4.0.0 6.58267E-06 None None None None N None 2.41511E-05 0 None 0 0 None 0 0 0 0 0
F/L 15831 Fn3-2 74 rs1254678591 0.9896 -0.818 0.999 D 0.681 0.539 0.373537453441 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
F/L 15831 Fn3-2 74 rs1254678591 0.9896 -0.818 0.999 D 0.681 0.539 0.373537453441 gnomAD-4.0.0 1.59364E-06 None None None None N None 0 2.28885E-05 None 0 0 None 0 0 0 0 0
Y/H 15932 Fn3-3 74 rs780464378 0.9436 None 1.0 D 0.765 0.629 0.439870908748 gnomAD-4.0.0 4.25533E-06 None None None None N None 0 0 None 0 0 None 0 0 4.5963E-06 1.27756E-05 0
F/C 16127 Fn3-4 73 None 0.9822 None 1.0 D 0.851 0.69 0.85228059225 gnomAD-4.0.0 1.5945E-06 None None None None N None 0 0 None 0 2.78087E-05 None 0 0 0 0 0
F/L 16523 Fn3-7 74 rs1553700258 0.9981 None 0.999 D 0.679 0.529 0.648577244254 gnomAD-4.0.0 1.59717E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86582E-06 0 0
F/L 16623 Fn3-8 73 None 0.9881 None 0.999 D 0.687 0.555 0.541376754579 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
F/S 16623 Fn3-8 73 rs1244057905 0.9985 -3.591 1.0 D 0.829 0.772 None gnomAD-2.1.1 8.08E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
F/S 16623 Fn3-8 73 rs1244057905 0.9985 -3.591 1.0 D 0.829 0.772 None gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
F/S 16623 Fn3-8 73 rs1244057905 0.9985 -3.591 1.0 D 0.829 0.772 None gnomAD-4.0.0 9.92334E-06 None None None None N None 0 0 None 0 0 None 0 0 1.35686E-05 0 0
F/L 16824 Fn3-10 74 rs1460335685 0.9957 -1.301 0.999 D 0.683 0.552 0.529460334844 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
F/L 16824 Fn3-10 74 rs1460335685 0.9957 -1.301 0.999 D 0.683 0.552 0.529460334844 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
F/L 16824 Fn3-10 74 rs1460335685 0.9957 -1.301 0.999 D 0.683 0.552 0.529460334844 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
F/L 17119 Fn3-12 73 rs772013942 0.9929 -1.393 0.999 N 0.69 0.572 0.541239005379 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.96E-05 0 None 0 None 0 0 0
F/L 17119 Fn3-12 73 rs772013942 0.9929 -1.393 0.999 N 0.69 0.572 0.541239005379 gnomAD-4.0.0 3.18568E-06 None None None None N None 0 0 None 4.77145E-05 0 None 0 0 0 1.43308E-05 0
F/S 17119 Fn3-12 73 rs954360499 0.9985 -3.841 1.0 D 0.843 0.742 0.766503906644 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
F/S 17119 Fn3-12 73 rs954360499 0.9985 -3.841 1.0 D 0.843 0.742 0.766503906644 gnomAD-4.0.0 1.59282E-06 None None None None N None 0 2.2877E-05 None 0 0 None 0 0 0 0 0
F/V 17119 Fn3-12 73 rs370696020 0.9687 -1.908 1.0 N 0.774 0.522 None gnomAD-2.1.1 7.51E-05 None None None None N None 0 0 None 0 0 None 4.57546E-04 None 0 5.48E-05 0
F/V 17119 Fn3-12 73 rs370696020 0.9687 -1.908 1.0 N 0.774 0.522 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 2.07039E-04 0
F/V 17119 Fn3-12 73 rs370696020 0.9687 -1.908 1.0 N 0.774 0.522 None gnomAD-4.0.0 3.53369E-05 None None None None N None 0 0 None 0 0 None 0 1.6518E-04 2.03507E-05 3.51393E-04 0
F/I 17220 Fn3-13 74 rs747296177 0.9617 -1.093 0.982 N 0.719 0.455 0.381916209588 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
F/I 17220 Fn3-13 74 rs747296177 0.9617 -1.093 0.982 N 0.719 0.455 0.381916209588 gnomAD-4.0.0 1.59315E-06 None None None None N None 0 0 None 0 2.77593E-05 None 0 0 0 0 0
F/S 17443 Fn3-14 75 None 0.9985 None 0.991 D 0.86 0.596 0.811158110691 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
L/F 17642 Fn3-16 74 None 0.2814 None 0.968 N 0.767 0.253 0.478905595755 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
F/L 18244 Fn3-20 79 rs1301615048 0.9972 -1.129 0.989 N 0.691 0.483 0.437741185291 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.35E-05 0
F/L 18244 Fn3-20 79 rs1301615048 0.9972 -1.129 0.989 N 0.691 0.483 0.437741185291 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.42E-05 0 0
F/L 18244 Fn3-20 79 rs1301615048 0.9972 -1.129 0.989 N 0.691 0.483 0.437741185291 gnomAD-4.0.0 6.41513E-06 None None None None N None 0 0 None 0 0 None 0 0 1.19856E-05 0 0
F/I 18347 Fn3-21 76 None 0.782 None 1.0 N 0.762 0.55 0.495640347216 gnomAD-4.0.0 1.59323E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86159E-06 0 0
F/L 18347 Fn3-21 76 rs761905658 0.9644 None 0.999 N 0.691 0.57 0.459995458672 gnomAD-4.0.0 2.73827E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59915E-06 0 0
F/S 18551 Fn3-22 73 rs370461936 0.9989 -3.943 1.0 D 0.821 0.778 None gnomAD-4.0.0 6.38963E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14775E-05 0 0
F/S 18657 Fn3-23 79 rs1309684601 0.9985 -3.437 1.0 D 0.808 0.645 0.747043374901 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
F/S 18657 Fn3-23 79 rs1309684601 0.9985 -3.437 1.0 D 0.808 0.645 0.747043374901 gnomAD-4.0.0 1.59296E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86172E-06 0 0
F/C 18857 Fn3-24 74 None 0.914 None 0.997 D 0.839 0.562 0.868104388563 gnomAD-4.0.0 1.44558E-06 None None None None N None 0 0 None 0 5.16742E-05 None 0 0 0 0 0
F/L 18857 Fn3-24 74 rs771676699 0.9808 -1.377 0.247 N 0.675 0.436 0.594113984522 gnomAD-2.1.1 5.29E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.1E-05 0
F/L 18857 Fn3-24 74 rs771676699 0.9808 -1.377 0.247 N 0.675 0.436 0.594113984522 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
F/L 18857 Fn3-24 74 rs771676699 0.9808 -1.377 0.247 N 0.675 0.436 0.594113984522 gnomAD-4.0.0 1.44732E-06 None None None None N None 0 0 None 0 0 None 0 0 9.28012E-07 1.44467E-05 0
F/S 18857 Fn3-24 74 None 0.9954 None 0.971 D 0.85 0.648 0.864674026043 gnomAD-4.0.0 7.22788E-07 None None None None N None 0 0 None 0 0 None 0 0 9.27269E-07 0 0
F/L 18961 Fn3-25 78 None 0.9967 None 0.885 N 0.711 0.422 0.607789150232 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 0
F/L 19061 Fn3-26 74 None 0.9847 None 0.999 N 0.693 0.525 0.430808444494 gnomAD-4.0.0 3.60098E-06 None None None None N None 0 0 None 0 0 None 0 6.17284E-04 2.62502E-06 0 0
F/Y 19061 Fn3-26 74 None 0.6084 None 0.999 N 0.61 0.402 0.5763749866 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
Y/C 19357 Fn3-28 74 rs373907843 0.8541 -1.517 0.995 N 0.881 0.382 None gnomAD-2.1.1 1.62E-05 None None None None N None 2.58565E-04 0 None 0 0 None 0 None 0 0 0
Y/C 19357 Fn3-28 74 rs373907843 0.8541 -1.517 0.995 N 0.881 0.382 None gnomAD-3.1.2 3.29E-05 None None None None N None 1.20662E-04 0 0 0 0 None 0 0 0 0 0
Y/C 19357 Fn3-28 74 rs373907843 0.8541 -1.517 0.995 N 0.881 0.382 None gnomAD-4.0.0 8.98118E-06 None None None None N None 1.18495E-04 0 None 0 0 None 0 0 0 0 0
F/L 19755 Fn3-31 76 None 0.9807 None 0.999 N 0.667 0.505 0.535102873643 gnomAD-4.0.0 6.84314E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99582E-07 0 0
F/L 19949 Fn3-32 73 None 0.9908 None 0.999 N 0.693 0.507 0.563321428455 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
F/L 21036 Fn3-40 74 rs1031673060 0.9967 None 0.999 N 0.637 0.509 0.515430650102 gnomAD-4.0.0 1.64234E-06 None None None None N None 0 0 None 0 0 None 0 0 2.92836E-06 0 0
F/L 21143 Fn3-41 80 None 0.9544 None 0.999 N 0.589 0.561 0.470648230714 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
F/S 21143 Fn3-41 80 None 0.9948 None 1.0 D 0.765 0.74 0.857443246798 gnomAD-4.0.0 1.595E-06 None None None None N None 0 0 None 0 2.79486E-05 None 0 0 0 0 0
F/C 21632 Fn3-44 74 None 0.9638 None 1.0 D 0.812 0.585 0.863004777908 gnomAD-4.0.0 1.59188E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85959E-06 0 0
F/V 21632 Fn3-44 74 None 0.9101 None 1.0 N 0.674 0.593 0.831593946108 gnomAD-4.0.0 1.59186E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
F/C 21732 Fn3-45 74 None 0.978 None 1.0 D 0.827 0.632 0.852628768757 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
F/L 21732 Fn3-45 74 rs397517661 0.9968 -0.995 0.999 N 0.643 0.529 0.473853734676 gnomAD-2.1.1 2.62376E-04 None None None None N None 0 0 None 0 0 None 1.93063E-03 None 0 3.58E-05 3.32447E-04
F/L 21732 Fn3-45 74 rs397517661 0.9968 -0.995 0.999 N 0.643 0.529 0.473853734676 gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 0 1.03563E-03 0
F/L 21732 Fn3-45 74 rs397517661 0.9968 -0.995 0.999 N 0.643 0.529 0.473853734676 gnomAD-4.0.0 1.06018E-04 None None None None N None 0 0 None 0 2.23314E-05 None 0 0 4.2397E-06 1.71421E-03 1.44189E-04
F/L 21832 Fn3-46 76 rs1366676743 0.9945 -1.913 0.999 N 0.65 0.532 0.341226946553 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.74E-05 None 0 0 None 0 None 0 0 0
F/L 21832 Fn3-46 76 rs1366676743 0.9945 -1.913 0.999 N 0.65 0.532 0.341226946553 gnomAD-4.0.0 3.18942E-06 None None None None N None 0 4.58106E-05 None 0 0 None 0 0 0 0 0
F/S 21832 Fn3-46 76 None 0.9992 None 1.0 D 0.869 0.664 0.862863435949 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
F/L 22028 Fn3-47 73 rs1448745860 0.9968 None 0.999 N 0.685 0.587 0.674832526739 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
F/L 22028 Fn3-47 73 rs1448745860 0.9968 None 0.999 N 0.685 0.587 0.674832526739 gnomAD-4.0.0 1.24035E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69595E-06 0 0
F/S 22128 Fn3-48 74 rs2047881254 0.9988 None 0.991 D 0.745 0.483 0.651281849334 gnomAD-4.0.0 3.18462E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72053E-06 0 0
F/L 22230 Fn3-49 75 None 0.9646 None 0.999 N 0.665 0.527 0.473774312618 gnomAD-4.0.0 1.36958E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80014E-06 0 0
F/V 22230 Fn3-49 75 None 0.8146 None 1.0 N 0.757 0.531 0.807746936315 gnomAD-4.0.0 1.59392E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43357E-05 0
F/S 22716 Fn3-52 74 rs1189895762 0.9978 None 1.0 D 0.818 0.761 0.821253904692 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
F/S 22716 Fn3-52 74 rs1189895762 0.9978 None 1.0 D 0.818 0.761 0.821253904692 gnomAD-4.0.0 6.5773E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47115E-05 0 0
F/S 22816 Fn3-53 74 rs767342781 0.9961 -3.517 1.0 D 0.823 0.76 0.848892600203 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
F/S 22816 Fn3-53 74 rs767342781 0.9961 -3.517 1.0 D 0.823 0.76 0.848892600203 gnomAD-4.0.0 1.59243E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43332E-05 0
F/Y 22816 Fn3-53 74 rs767342781 0.4724 -1.138 0.999 N 0.582 0.466 0.65177841282 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
F/L 22914 Fn3-54 74 None 0.9919 None 0.999 N 0.681 0.577 0.530754069387 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
F/C 23112 Fn3-55 73 rs1379413245 0.987 -1.124 1.0 D 0.835 0.663 0.723112547439 gnomAD-2.1.1 6.37E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.29651E-04 0
F/C 23112 Fn3-55 73 rs1379413245 0.987 -1.124 1.0 D 0.835 0.663 0.723112547439 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
F/C 23112 Fn3-55 73 rs1379413245 0.987 -1.124 1.0 D 0.835 0.663 0.723112547439 gnomAD-4.0.0 1.48758E-05 None None None None N None 0 0 None 0 0 None 0 0 2.03463E-05 0 0
F/L 23314 Fn3-57 75 None 0.9809 None 0.999 N 0.683 0.537 0.381580015636 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
F/L 23507 Fn3-58 73 rs764286640 0.988 -1.427 1.0 N 0.695 0.535 0.603876675548 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
F/L 23507 Fn3-58 73 rs764286640 0.988 -1.427 1.0 N 0.695 0.535 0.603876675548 gnomAD-4.0.0 3.18322E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86599E-05 0
F/L 23603 Fn3-59 72 None 0.9932 None 1.0 N 0.667 0.522 0.719263558215 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
F/L 23799 Fn3-60 74 rs1709458416 0.9929 None 0.999 N 0.693 0.534 0.414670632993 gnomAD-4.0.0 1.59277E-06 None None None None N None 0 0 None 0 2.77762E-05 None 0 0 0 0 0
F/L 23899 Fn3-61 74 None 0.9926 None 0.98 N 0.711 0.424 0.624499334446 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 0
F/L 23997 Fn3-62 74 rs1709236478 0.9918 None 0.948 N 0.661 0.478 0.602933245068 gnomAD-4.0.0 4.77509E-06 None None None None N None 0 0 None 0 0 None 0 0 5.7183E-06 0 3.02444E-05
F/Y 24195 Fn3-63 74 None 0.8277 None 0.999 N 0.593 0.476 0.660345337224 gnomAD-4.0.0 1.48632E-06 None None None None N None 0 0 None 0 0 None 0 0 1.88982E-06 0 0
I/M 24397 Fn3-65 75 rs1269666445 0.2187 -1.083 0.884 N 0.687 0.341 0.425851741357 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 5.64E-05 None 0 None 0 0 0
I/M 24397 Fn3-65 75 rs1269666445 0.2187 -1.083 0.884 N 0.687 0.341 0.425851741357 gnomAD-4.0.0 1.59249E-06 None None None None N None 0 0 None 0 2.78753E-05 None 0 0 0 0 0
F/C 24591 Fn3-66 73 rs371513695 0.9924 -1.664 1.0 D 0.85 0.712 None gnomAD-4.0.0 1.36951E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80033E-06 0 0
F/L 24687 Fn3-67 72 rs760337531 0.9929 -1.242 1.0 N 0.692 0.51 0.573614764001 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
F/L 24687 Fn3-67 72 rs760337531 0.9929 -1.242 1.0 N 0.692 0.51 0.573614764001 gnomAD-4.0.0 2.73764E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59842E-06 0 0
F/Y 24687 Fn3-67 72 rs775051314 0.8616 -1.129 1.0 N 0.602 0.45 0.609718080597 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
F/Y 24687 Fn3-67 72 rs775051314 0.8616 -1.129 1.0 N 0.602 0.45 0.609718080597 gnomAD-4.0.0 2.73767E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59843E-06 0 0
F/L 24981 Fn3-69 74 None 0.9881 None 0.999 N 0.665 0.543 0.340510301474 gnomAD-4.0.0 6.84321E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99575E-07 0 0
F/V 24981 Fn3-69 74 rs1559399002 0.9153 None 1.0 N 0.671 0.557 0.768676903783 gnomAD-4.0.0 6.84321E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65711E-05
F/L 25769 Fn3-75 72 rs778877994 0.9833 -1.16 1.0 N 0.684 0.547 0.441949972293 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
F/L 26161 Fn3-78 74 rs876658082 0.9911 None 0.489 N 0.717 0.432 0.398283496042 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
F/L 26161 Fn3-78 74 rs876658082 0.9911 None 0.489 N 0.717 0.432 0.398283496042 gnomAD-4.0.0 6.57462E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4705E-05 0 0
F/L 26359 Fn3-79 74 rs764833155 0.993 -1.811 0.999 N 0.659 0.572 0.628821965753 gnomAD-2.1.1 3.62E-05 None None None None N None 0 0 None 0 0 None 2.94118E-04 None 0 0 0
F/L 26359 Fn3-79 74 rs764833155 0.993 -1.811 0.999 N 0.659 0.572 0.628821965753 gnomAD-4.0.0 1.7107E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.89842E-04 0
F/C 26459 Fn3-80 74 None 0.9815 None 0.999 D 0.845 0.515 0.633181949713 gnomAD-4.0.0 2.73749E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59813E-06 0 0
I/L 26561 Fn3-81 75 rs777951468 0.0953 -0.342 None N 0.173 0.096 0.300784259202 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 1.63409E-04 None 0 0 0
I/L 26561 Fn3-81 75 rs777951468 0.0953 -0.342 None N 0.173 0.096 0.300784259202 gnomAD-4.0.0 5.4748E-06 None None None None N None 0 0 None 0 0 None 0 0 0 8.11557E-05 1.65689E-05
I/M 26561 Fn3-81 75 rs558767363 0.1361 -0.766 0.171 N 0.617 0.175 0.380223377699 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
I/M 26561 Fn3-81 75 rs558767363 0.1361 -0.766 0.171 N 0.617 0.175 0.380223377699 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93498E-04 None 0 0 0 0 0
I/M 26561 Fn3-81 75 rs558767363 0.1361 -0.766 0.171 N 0.617 0.175 0.380223377699 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
I/M 26561 Fn3-81 75 rs558767363 0.1361 -0.766 0.171 N 0.617 0.175 0.380223377699 gnomAD-4.0.0 2.02981E-06 None None None None N None 0 0 None 0 1.13817E-04 None 0 0 1.205E-06 0 0
I/T 26561 Fn3-81 75 rs754674270 0.8769 -2.613 0.012 N 0.646 0.357 0.585443171169 gnomAD-2.1.1 4.03E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
I/T 26561 Fn3-81 75 rs754674270 0.8769 -2.613 0.012 N 0.646 0.357 0.585443171169 gnomAD-4.0.0 1.59196E-06 None None None None N None 5.65867E-05 0 None 0 0 None 0 0 0 0 0
I/V 26561 Fn3-81 75 rs777951468 0.1044 -0.974 None N 0.146 0.077 0.346544149963 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
I/V 26561 Fn3-81 75 rs777951468 0.1044 -0.974 None N 0.146 0.077 0.346544149963 gnomAD-4.0.0 6.8435E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99525E-07 0 0
F/L 26755 Fn3-82 73 rs200181804 0.9915 -1.479 1.0 N 0.689 0.553 0.562844193612 gnomAD-2.1.1 1.60642E-04 None None None None N None 8.27E-05 1.69693E-04 None 0 0 None 0 None 0 2.73506E-04 2.80505E-04
F/L 26755 Fn3-82 73 rs200181804 0.9915 -1.479 1.0 N 0.689 0.553 0.562844193612 gnomAD-3.1.2 2.95784E-04 None None None None N None 1.44725E-04 3.27783E-04 0 0 0 None 0 0 4.70533E-04 0 9.56938E-04
F/L 26755 Fn3-82 73 rs200181804 0.9915 -1.479 1.0 N 0.689 0.553 0.562844193612 1000 genomes 3.99361E-04 None None None None N None 0 1.4E-03 None None 0 1E-03 None None None 0 None
F/L 26755 Fn3-82 73 rs200181804 0.9915 -1.479 1.0 N 0.689 0.553 0.562844193612 gnomAD-4.0.0 2.9498E-04 None None None None N None 1.06615E-04 1.83358E-04 None 0 0 None 0 0 3.65361E-04 0 4.16226E-04
F/S 26755 Fn3-82 73 None 0.998 None 1.0 D 0.843 0.769 0.878141233213 gnomAD-4.0.0 1.59159E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85919E-06 0 0
F/L 26851 Fn3-83 72 None 0.9872 None 0.668 N 0.349 0.564 0.477451190609 gnomAD-4.0.0 6.84278E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99559E-07 0 0
F/L 27045 Fn3-84 74 rs190041566 0.9832 -0.532 0.999 N 0.669 0.693 0.404733080969 gnomAD-2.1.1 3.64E-05 None None None None N None 0 2.04368E-04 None 0 0 None 0 None 0 1.78E-05 0
F/L 27045 Fn3-84 74 rs190041566 0.9832 -0.532 0.999 N 0.669 0.693 0.404733080969 gnomAD-3.1.2 1.31E-05 None None None None N None 0 6.55E-05 0 0 0 None 0 0 1.47E-05 0 0
F/L 27045 Fn3-84 74 rs190041566 0.9832 -0.532 0.999 N 0.669 0.693 0.404733080969 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
F/L 27045 Fn3-84 74 rs190041566 0.9832 -0.532 0.999 N 0.669 0.693 0.404733080969 gnomAD-4.0.0 1.55059E-05 None None None None N None 0 1.00375E-04 None 0 0 None 0 0 1.61119E-05 0 0
F/I 27442 Fn3-87 74 None 0.9102 None 1.0 N 0.775 0.527 0.515771540734 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
F/I 27542 Fn3-88 74 rs1704452293 0.9605 None 0.565 N 0.731 0.472 0.504480301252 gnomAD-4.0.0 2.05262E-06 None None None None N None 0 0 None 0 0 None 0 0 8.9947E-07 0 3.31334E-05
F/L 27644 Fn3-89 75 rs1166436364 0.9338 -1.29 0.999 N 0.69 0.536 0.46614307118 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
F/L 27644 Fn3-89 75 rs1166436364 0.9338 -1.29 0.999 N 0.69 0.536 0.46614307118 gnomAD-4.0.0 1.36846E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79903E-06 0 0
F/L 28523 Fn3-95 74 rs761341032 0.9859 -1.231 0.999 N 0.677 0.59 0.461845970543 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
F/L 28523 Fn3-95 74 rs761341032 0.9859 -1.231 0.999 N 0.677 0.59 0.461845970543 gnomAD-4.0.0 1.59251E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85912E-06 0 0
Y/C 28623 Fn3-96 74 None 0.8092 None 0.999 N 0.849 0.394 0.582605312856 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
F/S 29013 Fn3-99 72 rs1171065121 0.9953 -3.663 1.0 D 0.845 0.751 0.850690645745 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
F/S 29013 Fn3-99 72 rs1171065121 0.9953 -3.663 1.0 D 0.845 0.751 0.850690645745 gnomAD-4.0.0 1.59143E-06 None None None None N None 0 0 None 0 2.77901E-05 None 0 0 0 0 0
F/I 29408 Fn3-102 74 None 0.7873 None 1.0 N 0.773 0.534 0.478068462777 gnomAD-4.0.0 1.59127E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
F/S 30005 Fn3-106 73 None 0.9946 None 1.0 D 0.813 0.7 0.868488552877 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
F/L 30101 Fn3-107 72 rs777004601 0.9884 -1.377 0.999 N 0.653 0.508 0.569419966681 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
F/L 30101 Fn3-107 72 rs777004601 0.9884 -1.377 0.999 N 0.653 0.508 0.569419966681 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
F/V 30101 Fn3-107 72 None 0.9048 None 1.0 N 0.673 0.544 0.666230076168 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 0 None 1.8826E-05 0 0 0 0
F/L 30297 Fn3-108 74 rs774830322 0.9891 -1.645 0.999 N 0.654 0.566 0.414670632993 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
F/L 30297 Fn3-108 74 rs774830322 0.9891 -1.645 0.999 N 0.654 0.566 0.414670632993 gnomAD-4.0.0 1.59342E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02847E-05
F/C 30397 Fn3-109 74 None 0.8969 None 1.0 D 0.86 0.704 0.847619057368 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92678E-04 None 0 0 0 0 0
F/C 30397 Fn3-109 74 None 0.8969 None 1.0 D 0.86 0.704 0.847619057368 gnomAD-4.0.0 6.57022E-06 None None None None N None 0 0 None 0 1.92678E-04 None 0 0 0 0 0
F/L 30397 Fn3-109 74 None 0.9848 None 0.999 N 0.652 0.551 0.530160902827 gnomAD-4.0.0 6.8432E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15985E-05 0
F/V 30397 Fn3-109 74 rs1699512079 0.9064 None 1.0 N 0.797 0.56 0.822675192224 gnomAD-4.0.0 1.36864E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79913E-06 0 0
F/L 30494 Fn3-110 73 None 0.9944 None 0.999 N 0.683 0.54 0.551961605406 gnomAD-4.0.0 1.59241E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85977E-06 0 0
F/L 30692 Fn3-111 74 None 0.9906 None 0.999 D 0.669 0.553 0.475895305069 gnomAD-4.0.0 1.59136E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8585E-06 0 0
F/L 30793 Fn3-112 75 None 0.9972 None 0.999 D 0.645 0.544 0.646007317467 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
F/L 31088 Fn3-114 73 rs751923958 0.9572 None 0.811 N 0.728 0.525 0.500994481783 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
F/L 31088 Fn3-114 73 rs751923958 0.9572 None 0.811 N 0.728 0.525 0.500994481783 gnomAD-4.0.0 6.57289E-06 None None None None N None 2.41359E-05 0 None 0 0 None 0 0 0 0 0
F/V 31088 Fn3-114 73 rs1023137329 0.7591 -1.514 0.896 N 0.801 0.523 0.787118677529 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
F/V 31088 Fn3-114 73 rs1023137329 0.7591 -1.514 0.896 N 0.801 0.523 0.787118677529 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
F/V 31088 Fn3-114 73 rs1023137329 0.7591 -1.514 0.896 N 0.801 0.523 0.787118677529 gnomAD-4.0.0 1.79703E-05 None None None None N None 0 0 None 0 0 None 0 0 2.37321E-05 0 1.60097E-05
F/V 31184 Fn3-115 72 None 0.9481 None 1.0 N 0.753 0.517 0.533375117726 gnomAD-4.0.0 8.43601E-06 None None None None N None 0 0 None 0 2.77624E-04 None 0 0 7.90624E-06 0 0
F/S 31381 Fn3-116 74 rs751185223 0.9993 -3.364 1.0 D 0.821 0.684 0.848173506427 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
F/S 31381 Fn3-116 74 rs751185223 0.9993 -3.364 1.0 D 0.821 0.684 0.848173506427 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
F/S 31381 Fn3-116 74 rs751185223 0.9993 -3.364 1.0 D 0.821 0.684 0.848173506427 gnomAD-4.0.0 1.30202E-05 None None None None N None 1.33508E-05 0 None 0 0 None 0 0 1.69571E-05 0 0
F/L 31481 Fn3-117 74 None 0.9961 None 0.999 N 0.682 0.555 0.433491693731 gnomAD-4.0.0 1.16316E-05 None None None None N None 0 0 None 0 0 None 0 0 1.43918E-05 0 1.65662E-05
F/L 31582 Fn3-118 77 None 0.9958 None 0.135 N 0.365 0.423 0.408988072059 gnomAD-4.0.0 6.84224E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99494E-07 0 0
F/V 31582 Fn3-118 77 rs1559151131 0.9824 None 0.961 N 0.825 0.512 0.796983491231 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
F/V 31582 Fn3-118 77 rs1559151131 0.9824 None 0.961 N 0.825 0.512 0.796983491231 gnomAD-4.0.0 9.57913E-06 None None None None N None 0 0 None 0 0 None 0 0 1.25929E-05 0 0
F/C 31780 Fn3-119 73 rs1696875038 0.9493 None 1.0 D 0.845 0.717 0.877205771031 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
F/C 31780 Fn3-119 73 rs1696875038 0.9493 None 1.0 D 0.845 0.717 0.877205771031 gnomAD-4.0.0 6.57073E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46998E-05 0 0
F/I 31881 Fn3-120 75 None 0.9394 None 1.0 N 0.773 0.529 0.510230903827 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
F/L 31881 Fn3-120 75 rs1157557986 0.9928 -2.417 0.999 D 0.654 0.514 0.625307926062 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
F/L 31881 Fn3-120 75 rs1157557986 0.9928 -2.417 0.999 D 0.654 0.514 0.625307926062 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
F/L 31983 Fn3-121 75 None 0.9664 None 0.999 N 0.678 0.482 0.454238212503 gnomAD-4.0.0 3.18269E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71716E-06 0 0
F/L 32177 Fn3-122 73 rs1283604141 0.9848 -1.358 1.0 N 0.693 0.513 0.660851695494 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
F/L 32177 Fn3-122 73 rs1283604141 0.9848 -1.358 1.0 N 0.693 0.513 0.660851695494 gnomAD-4.0.0 6.84229E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
F/S 32275 Fn3-123 74 rs1559119971 0.9974 None 1.0 D 0.852 0.709 0.861713873416 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
F/S 32275 Fn3-123 74 rs1559119971 0.9974 None 1.0 D 0.852 0.709 0.861713873416 gnomAD-3.1.2 1.32E-05 None None None None N None 2.42E-05 0 0 0 0 None 0 0 1.47E-05 0 0
F/S 32275 Fn3-123 74 rs1559119971 0.9974 None 1.0 D 0.852 0.709 0.861713873416 gnomAD-4.0.0 1.42607E-05 None None None None N None 1.33708E-05 0 None 0 0 None 0 0 1.86558E-05 0 0
F/S 32472 Fn3-124 74 None 0.9973 None 1.0 D 0.885 0.714 0.866212048144 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
H/Q 32572 Fn3-125 74 None 0.8866 None 0.996 N 0.739 0.356 0.330589388543 gnomAD-4.0.0 1.38141E-06 None None None None N None 0 0 None 0 0 None 0 0 1.81102E-06 0 0
H/Y 32572 Fn3-125 74 None 0.1073 None 0.061 N 0.282 0.221 0.163833314356 gnomAD-4.0.0 1.62164E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.47697E-05 0
F/V 32673 Fn3-126 74 None 0.9196 None 1.0 N 0.772 0.538 0.798737761311 gnomAD-4.0.0 1.59154E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43303E-05 0
F/L 32970 Fn3-128 75 rs574423649 0.9979 -1.264 0.999 N 0.668 0.513 0.625503179482 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 1.63399E-04 None 0 0 0
F/L 32970 Fn3-128 75 rs574423649 0.9979 -1.264 0.999 N 0.668 0.513 0.625503179482 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07039E-04 0
F/L 32970 Fn3-128 75 rs574423649 0.9979 -1.264 0.999 N 0.668 0.513 0.625503179482 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
F/L 32970 Fn3-128 75 rs574423649 0.9979 -1.264 0.999 N 0.668 0.513 0.625503179482 gnomAD-4.0.0 5.57701E-06 None None None None N None 0 0 None 0 0 None 0 0 0 9.88099E-05 0
F/L 33465 Fn3-131 74 rs1691494185 0.9929 None 0.999 N 0.681 0.575 0.45563089846 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
F/L 33465 Fn3-131 74 rs1691494185 0.9929 None 0.999 N 0.681 0.575 0.45563089846 gnomAD-4.0.0 6.57194E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46994E-05 0 0
F/I 33760 Fn3-132 72 None 0.9698 None 1.0 N 0.773 0.555 0.594169782683 gnomAD-4.0.0 1.59109E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
F/L 33760 Fn3-132 72 None 0.9975 None 0.999 N 0.689 0.549 0.696484460985 gnomAD-4.0.0 6.84183E-07 None None None None N None 0 0 None 0 0 None 1.87413E-05 0 0 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.