Structural position:

  • Domain Type: Fn3
  • Aligned Position: 8
  • 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
V/I 15765 Fn3-2 8 rs1553710761 0.1079 -0.68 0.987 N 0.659 0.21 0.572589462766 gnomAD-2.1.1 4.05E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
V/I 15765 Fn3-2 8 rs1553710761 0.1079 -0.68 0.987 N 0.659 0.21 0.572589462766 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
V/I 15765 Fn3-2 8 rs1553710761 0.1079 -0.68 0.987 N 0.659 0.21 0.572589462766 gnomAD-4.0.0 6.58198E-06 None None None None N None 2.41429E-05 0 None 0 0 None 0 0 0 0 0
P/L 19486 Fn3-29 8 None 0.4363 None 1.0 N 0.911 0.469 0.517876074734 gnomAD-4.0.0 6.84566E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65766E-05
P/R 19486 Fn3-29 8 None 0.5668 None 1.0 N 0.922 0.521 0.569878715874 gnomAD-4.0.0 2.0537E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69894E-06 0 0
P/R 20178 Fn3-34 8 None 0.4415 None 1.0 N 0.787 0.465 0.546824882953 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
P/S 22650 Fn3-52 8 None 0.4692 None 1.0 N 0.814 0.439 0.37568098594 gnomAD-4.0.0 2.05315E-06 None None None None N None 0 6.71141E-05 None 0 0 None 0 0 0 0 0
P/T 23733 Fn3-60 8 None 0.3419 None 1.0 N 0.779 0.454 0.453867917445 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
P/S 24129 Fn3-63 8 None 0.2343 None 0.905 N 0.313 0.427 0.28492961333 gnomAD-4.0.0 7.00649E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.25983E-05 0
P/T 24129 Fn3-63 8 rs769979644 0.193 -0.364 0.992 N 0.639 0.412 0.560228584591 gnomAD-2.1.1 4.53E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.77E-06 0
P/T 24129 Fn3-63 8 rs769979644 0.193 -0.364 0.992 N 0.639 0.412 0.560228584591 gnomAD-4.0.0 7.00649E-07 None None None None N None 0 0 None 0 0 None 0 0 9.11818E-07 0 0
P/L 24815 Fn3-68 8 rs1348642526 0.3313 0.113 1.0 N 0.899 0.53 0.634506232745 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
P/L 24815 Fn3-68 8 rs1348642526 0.3313 0.113 1.0 N 0.899 0.53 0.634506232745 gnomAD-4.0.0 3.18383E-06 None None None None N None 0 2.28655E-05 None 0 0 None 0 0 0 0 3.02517E-05
P/S 24815 Fn3-68 8 None 0.4386 None 1.0 N 0.819 0.408 0.418964662724 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
P/S 25211 Fn3-71 8 rs770140755 0.3479 -2.013 1.0 N 0.827 0.4 0.454798141022 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
P/S 25211 Fn3-71 8 rs770140755 0.3479 -2.013 1.0 N 0.827 0.4 0.454798141022 gnomAD-4.0.0 1.59236E-06 None None None None N None 0 2.28843E-05 None 0 0 None 0 0 0 0 0
P/T 25897 Fn3-76 8 rs370103639 0.3128 -1.247 1.0 N 0.817 0.41 0.444605663662 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
P/T 25897 Fn3-76 8 rs370103639 0.3128 -1.247 1.0 N 0.817 0.41 0.444605663662 gnomAD-4.0.0 3.18475E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71938E-06 0 0
P/S 26293 Fn3-79 8 None 0.2827 None 0.994 N 0.754 0.272 0.394536629495 gnomAD-4.0.0 1.60906E-06 None None None None N None 0 2.32829E-05 None 0 0 None 0 0 0 0 0
P/L 26979 Fn3-84 8 rs771437632 0.4445 0.073 1.0 N 0.89 0.559 0.785858261312 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
P/L 26979 Fn3-84 8 rs771437632 0.4445 0.073 1.0 N 0.89 0.559 0.785858261312 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
P/L 26979 Fn3-84 8 rs771437632 0.4445 0.073 1.0 N 0.89 0.559 0.785858261312 gnomAD-4.0.0 9.91707E-06 None None None None N None 1.33565E-05 0 None 0 0 None 0 0 1.18678E-05 0 1.60159E-05
P/T 27376 Fn3-87 8 rs1704684984 0.2048 None 1.0 N 0.761 0.41 0.564725595184 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
P/T 27376 Fn3-87 8 rs1704684984 0.2048 None 1.0 N 0.761 0.41 0.564725595184 gnomAD-4.0.0 2.47897E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39063E-06 0 0
P/A 28457 Fn3-95 8 rs947719918 0.2053 None 1.0 N 0.77 0.458 0.434160288164 gnomAD-4.0.0 6.84245E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99459E-07 0 0
P/S 28457 Fn3-95 8 None 0.2963 None 1.0 N 0.812 0.415 0.420570264827 gnomAD-4.0.0 6.84245E-07 None None None None N None 2.98793E-05 0 None 0 0 None 0 0 0 0 0
P/A 29144 Fn3-100 8 rs1208554527 0.2811 -1.237 1.0 N 0.759 0.478 0.434497104326 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
P/A 29144 Fn3-100 8 rs1208554527 0.2811 -1.237 1.0 N 0.759 0.478 0.434497104326 gnomAD-4.0.0 2.05346E-06 None None None None N None 2.98686E-05 0 None 0 5.03804E-05 None 0 0 0 0 0
P/R 29144 Fn3-100 8 rs1417177709 0.4745 None 1.0 N 0.876 0.529 0.513503867364 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
P/R 29144 Fn3-100 8 rs1417177709 0.4745 None 1.0 N 0.876 0.529 0.513503867364 gnomAD-4.0.0 6.81886E-06 None None None None N None 0 0 None 0 0 None 0 0 8.47561E-06 0 1.60123E-05
P/L 29540 Fn3-103 8 None 0.1697 None 0.012 N 0.31 0.301 0.513901218509 gnomAD-4.0.0 4.78947E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29609E-06 0 0
P/R 29540 Fn3-103 8 rs747863143 0.2004 0.212 0.934 N 0.513 0.358 0.499600832404 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
P/R 29540 Fn3-103 8 rs747863143 0.2004 0.212 0.934 N 0.513 0.358 0.499600832404 gnomAD-4.0.0 3.42105E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59776E-06 1.16007E-05 0
P/T 29540 Fn3-103 8 rs1342421251 0.1567 -0.394 0.891 N 0.427 0.349 0.415313616471 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.34E-05 0
P/T 29540 Fn3-103 8 rs1342421251 0.1567 -0.394 0.891 N 0.427 0.349 0.415313616471 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 1.09649E-03 0 0 None 0 0 0 0 0
P/T 29540 Fn3-103 8 rs1342421251 0.1567 -0.394 0.891 N 0.427 0.349 0.415313616471 gnomAD-4.0.0 4.95782E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93311E-06 0 0
P/S 30231 Fn3-108 8 rs373722546 0.4359 -0.976 1.0 D 0.858 0.466 None gnomAD-2.1.1 4.65E-05 None None None None I None 5.37545E-04 0 None 0 0 None 0 None 0 0 0
P/S 30231 Fn3-108 8 rs373722546 0.4359 -0.976 1.0 D 0.858 0.466 None gnomAD-3.1.2 1.31475E-04 None None None None I None 4.82649E-04 0 0 0 0 None 0 0 0 0 0
P/S 30231 Fn3-108 8 rs373722546 0.4359 -0.976 1.0 D 0.858 0.466 None 1000 genomes 5.99042E-04 None None None None I None 2.3E-03 0 None None 0 0 None None None 0 None
P/S 30231 Fn3-108 8 rs373722546 0.4359 -0.976 1.0 D 0.858 0.466 None gnomAD-4.0.0 1.79737E-05 None None None None I None 3.73194E-04 0 None 0 0 None 0 0 0 0 1.60123E-05
P/R 30626 Fn3-111 8 None 0.3314 None 1.0 N 0.819 0.516 0.490701487448 gnomAD-4.0.0 7.0044E-07 None None None None I None 0 0 None 0 0 None 0 0 9.12875E-07 0 0
P/S 30626 Fn3-111 8 rs888849578 0.2827 -0.547 1.0 N 0.807 0.432 0.387202362727 gnomAD-2.1.1 4.56E-06 None None None None I None 0 0 None 0 5.94E-05 None 0 None 0 0 0
P/S 30626 Fn3-111 8 rs888849578 0.2827 -0.547 1.0 N 0.807 0.432 0.387202362727 gnomAD-4.0.0 1.69052E-06 None None None None I None 0 0 None 0 2.80505E-05 None 0 0 0 0 0
P/H 31315 Fn3-116 8 None 0.3248 None 1.0 D 0.729 0.452 0.745503425957 gnomAD-4.0.0 1.59103E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
P/S 31315 Fn3-116 8 rs1160417169 0.2513 -0.548 0.957 N 0.35 0.42 0.376745185316 gnomAD-2.1.1 8.04E-06 None None None None N None 0 2.9E-05 None 0 0 None 3.27E-05 None 0 0 0
P/S 31315 Fn3-116 8 rs1160417169 0.2513 -0.548 0.957 N 0.35 0.42 0.376745185316 gnomAD-4.0.0 3.18211E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 0 1.43271E-05 0
P/L 32406 Fn3-124 8 rs1469824341 0.4016 0.078 0.999 N 0.749 0.434 0.616575112523 gnomAD-2.1.1 4.07E-06 None None None None I None 0 0 None 0 0 None 3.32E-05 None 0 0 0
P/L 32406 Fn3-124 8 rs1469824341 0.4016 0.078 0.999 N 0.749 0.434 0.616575112523 gnomAD-4.0.0 1.61253E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.44275E-05 0
P/T 32802 Fn3-127 8 rs1165279106 0.2256 -0.407 1.0 N 0.829 0.391 0.506613155829 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
P/T 32802 Fn3-127 8 rs1165279106 0.2256 -0.407 1.0 N 0.829 0.391 0.506613155829 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
P/T 32802 Fn3-127 8 rs1165279106 0.2256 -0.407 1.0 N 0.829 0.391 0.506613155829 gnomAD-4.0.0 2.56264E-06 None None None None N None 0 1.69503E-05 None 0 0 None 0 0 2.39286E-06 0 0
P/S 32903 Fn3-128 8 None 0.3058 None 0.79 N 0.441 0.385 0.268660756437 gnomAD-4.0.0 1.59183E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
P/L 33297 Fn3-130 8 rs369205591 0.4012 -0.168 0.998 N 0.734 0.441 None gnomAD-2.1.1 8.17E-06 None None None None I None 0 2.94E-05 None 0 0 None 0 None 0 9.02E-06 0
P/L 33297 Fn3-130 8 rs369205591 0.4012 -0.168 0.998 N 0.734 0.441 None gnomAD-4.0.0 1.61869E-06 None None None None I None 0 2.31653E-05 None 0 0 None 0 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.