Structural position:

  • Domain Type: Fn3
  • Aligned Position: 128
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand G

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 15851 Fn3-2 94 rs558671515 0.0868 0.314 0.004 N 0.167 0.057 None gnomAD-2.1.1 2.51E-05 None None None None N None 8.28E-05 2.84E-05 None 9.7E-05 0 None 3.27E-05 None 0 1.57E-05 0
V/I 15851 Fn3-2 94 rs558671515 0.0868 0.314 0.004 N 0.167 0.057 None gnomAD-3.1.2 1.98E-05 None None None None N None 7.25E-05 0 0 0 0 None 0 0 0 0 0
V/I 15851 Fn3-2 94 rs558671515 0.0868 0.314 0.004 N 0.167 0.057 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
V/I 15851 Fn3-2 94 rs558671515 0.0868 0.314 0.004 N 0.167 0.057 None gnomAD-4.0.0 2.79109E-05 None None None None N None 1.06832E-04 1.6695E-05 None 3.38524E-05 0 None 0 0 2.88397E-05 1.09885E-05 0
T/A 16443 Fn3-6 93 rs1200322239 0.0887 -0.686 0.002 N 0.279 0.062 0.183819452728 gnomAD-2.1.1 8.09E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
T/A 16443 Fn3-6 93 rs1200322239 0.0887 -0.686 0.002 N 0.279 0.062 0.183819452728 gnomAD-4.0.0 4.79359E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29918E-06 0 0
T/I 16443 Fn3-6 93 None 0.0493 None None N 0.171 0.098 0.0611884634855 gnomAD-4.0.0 1.59478E-06 None None None None N None 0 0 None 0 0 None 0 2.42014E-04 0 0 0
T/R 16443 Fn3-6 93 rs1343316485 0.1444 -0.203 0.162 N 0.485 0.079 0.167679373172 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.95E-06 0
T/R 16443 Fn3-6 93 rs1343316485 0.1444 -0.203 0.162 N 0.485 0.079 0.167679373172 gnomAD-4.0.0 4.78434E-06 None None None None N None 0 0 None 0 0 None 0 0 8.58826E-06 0 0
V/A 17463 Fn3-14 95 rs2055509870 0.1438 None 0.002 N 0.217 0.066 0.180583059064 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/A 17463 Fn3-14 95 rs2055509870 0.1438 None 0.002 N 0.217 0.066 0.180583059064 gnomAD-4.0.0 6.57713E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
V/M 17463 Fn3-14 95 None 0.1146 None 0.001 N 0.223 0.112 0.0806252709748 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
T/R 18877 Fn3-24 94 rs755224119 0.1251 -0.194 0.483 N 0.565 0.211 0.254761474806 gnomAD-2.1.1 5.88E-06 None None None None N None 7.1E-05 0 None 0 0 None 0 None 0 0 0
T/R 18877 Fn3-24 94 rs755224119 0.1251 -0.194 0.483 N 0.565 0.211 0.254761474806 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
T/R 18877 Fn3-24 94 rs755224119 0.1251 -0.194 0.483 N 0.565 0.211 0.254761474806 gnomAD-4.0.0 2.97642E-06 None None None None N None 1.80806E-05 0 None 0 0 None 0 0 2.71135E-06 0 0
K/E 19970 Fn3-32 94 None 0.405 None 0.997 N 0.839 0.264 0.315609569513 gnomAD-4.0.0 1.59358E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86085E-06 0 0
V/D 20264 Fn3-34 94 None 0.5089 None 0.999 N 0.829 0.456 0.736651910863 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
V/G 20264 Fn3-34 94 rs766974366 0.4252 None 0.999 N 0.827 0.419 0.714628216355 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
V/L 20264 Fn3-34 94 None 0.1649 None 0.994 N 0.657 0.269 0.45470266194 gnomAD-4.0.0 6.84425E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99713E-07 0 0
I/T 20956 Fn3-39 93 rs758926314 0.0854 -2.591 0.003 N 0.341 0.219 0.497613835824 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
I/T 20956 Fn3-39 93 rs758926314 0.0854 -2.591 0.003 N 0.341 0.219 0.497613835824 gnomAD-3.1.2 1.32E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
I/T 20956 Fn3-39 93 rs758926314 0.0854 -2.591 0.003 N 0.341 0.219 0.497613835824 gnomAD-4.0.0 2.54147E-05 None None None None N None 2.67051E-05 0 None 0 0 None 0 0 3.22135E-05 0 1.60159E-05
V/A 21652 Fn3-44 94 rs1386324100 0.1483 None 0.025 N 0.409 0.237 0.532359089423 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
I/M 22048 Fn3-47 93 rs980906933 0.1041 None 0.001 N 0.217 0.073 0.192905019026 gnomAD-4.0.0 6.66274E-06 None None None None N None 0 0 None 0 0 None 0 2.49128E-04 8.84215E-06 0 0
I/N 22048 Fn3-47 93 None 0.401 None 0.162 N 0.541 0.174 0.690481662768 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
I/V 22048 Fn3-47 93 rs1282316821 0.0551 None None N 0.1 0.061 0.194818534648 gnomAD-4.0.0 1.66088E-06 None None None None N None 0 0 None 0 0 None 0 0 2.94291E-06 0 0
V/A 22736 Fn3-52 94 rs1398519394 0.2272 -1.486 0.469 N 0.436 0.23 0.518585293439 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.66834E-04
V/A 22736 Fn3-52 94 rs1398519394 0.2272 -1.486 0.469 N 0.436 0.23 0.518585293439 gnomAD-4.0.0 1.59809E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0338E-05
V/G 22736 Fn3-52 94 rs1398519394 0.4444 None 0.938 N 0.709 0.459 0.737181652176 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/G 22736 Fn3-52 94 rs1398519394 0.4444 None 0.938 N 0.709 0.459 0.737181652176 gnomAD-4.0.0 6.57774E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
V/I 23819 Fn3-60 94 rs1709440654 0.0712 None 0.004 N 0.187 0.049 0.267755039894 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 23819 Fn3-60 94 rs1709440654 0.0712 None 0.004 N 0.187 0.049 0.267755039894 gnomAD-4.0.0 2.56401E-06 None None None None N None 1.69182E-05 0 None 0 0 None 0 0 0 0 2.84576E-05
V/I 24901 Fn3-68 94 rs766110889 0.066 -0.251 None N 0.197 0.095 0.223146558224 gnomAD-2.1.1 1.08774E-04 None None None None N None 0 0 None 0 0 None 8.82526E-04 None 0 0 0
V/I 24901 Fn3-68 94 rs766110889 0.066 -0.251 None N 0.197 0.095 0.223146558224 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07039E-04 0
V/I 24901 Fn3-68 94 rs766110889 0.066 -0.251 None N 0.197 0.095 0.223146558224 gnomAD-4.0.0 4.09089E-05 None None None None N None 0 0 None 0 0 None 0 0 2.54326E-06 6.69741E-04 3.20338E-05
V/L 25983 Fn3-76 94 rs562762535 0.1565 -0.371 0.001 N 0.177 0.036 0.388334884743 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07125E-04 0
V/L 25983 Fn3-76 94 rs562762535 0.1565 -0.371 0.001 N 0.177 0.036 0.388334884743 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
V/L 25983 Fn3-76 94 rs562762535 0.1565 -0.371 0.001 N 0.177 0.036 0.388334884743 gnomAD-4.0.0 6.57333E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07297E-04 0
I/F 27065 Fn3-84 94 rs1374004935 0.1428 -1.624 0.177 N 0.737 0.152 0.12205267543 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
I/V 27065 Fn3-84 94 None 0.0524 None None N 0.152 0.071 0.141422826196 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
V/A 28147 Fn3-92 93 rs1285081649 0.1571 -1.736 0.001 N 0.345 0.256 0.572760530292 gnomAD-2.1.1 4.08E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.01E-06 0
V/A 28147 Fn3-92 93 rs1285081649 0.1571 -1.736 0.001 N 0.345 0.256 0.572760530292 gnomAD-4.0.0 2.0612E-06 None None None None N None 0 0 None 0 0 None 0 0 2.7078E-06 0 0
V/F 28147 Fn3-92 93 rs1318887192 0.1682 -1.085 0.624 N 0.801 0.292 0.807043397782 gnomAD-2.1.1 4.09E-06 None None None None N None 0 0 None 0 5.62E-05 None 0 None 0 0 0
V/F 28147 Fn3-92 93 rs1318887192 0.1682 -1.085 0.624 N 0.801 0.292 0.807043397782 gnomAD-4.0.0 1.60743E-06 None None None None N None 0 0 None 0 2.78753E-05 None 0 0 0 0 0
V/L 28147 Fn3-92 93 None 0.1294 None 0.033 N 0.646 0.134 0.445811967706 gnomAD-4.0.0 1.60743E-06 None None None None N None 0 0 None 0 0 None 0 0 2.89109E-06 0 0
T/S 29230 Fn3-100 94 rs1309744961 0.1015 -0.991 0.002 N 0.293 0.072 0.0401082797425 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
T/S 29230 Fn3-100 94 rs1309744961 0.1015 -0.991 0.002 N 0.293 0.072 0.0401082797425 gnomAD-4.0.0 1.36849E-06 None None None None N None 5.97872E-05 0 None 0 0 None 0 0 0 0 0
T/A 30121 Fn3-107 92 rs1028805894 0.0985 None 0.991 N 0.51 0.153 0.17258766438 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
T/A 30121 Fn3-107 92 rs1028805894 0.0985 None 0.991 N 0.51 0.153 0.17258766438 gnomAD-4.0.0 4.33788E-06 None None None None N None 0 1.667E-05 None 0 0 None 0 0 5.08563E-06 0 0
V/A 30317 Fn3-108 94 rs759474127 0.1332 -1.526 0.025 N 0.58 0.221 None gnomAD-2.1.1 3.57E-05 None None None None N None 2.47872E-04 1.1318E-04 None 0 0 None 0 None 0 0 0
V/A 30317 Fn3-108 94 rs759474127 0.1332 -1.526 0.025 N 0.58 0.221 None gnomAD-3.1.2 8.54E-05 None None None None N None 3.1354E-04 0 0 0 0 None 0 0 0 0 0
V/A 30317 Fn3-108 94 rs759474127 0.1332 -1.526 0.025 N 0.58 0.221 None gnomAD-4.0.0 2.04631E-05 None None None None N None 2.93623E-04 8.33695E-05 None 0 0 None 0 0 2.54478E-06 0 4.806E-05
V/E 30317 Fn3-108 94 rs759474127 0.2558 -2.365 0.001 D 0.492 0.27 0.755777071576 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.3089E-04 None 0 0 0
V/E 30317 Fn3-108 94 rs759474127 0.2558 -2.365 0.001 D 0.492 0.27 0.755777071576 gnomAD-4.0.0 8.90109E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.04384E-04 6.6302E-05
I/T 31401 Fn3-116 94 rs879001552 0.0797 -1.234 None N 0.198 0.161 None gnomAD-2.1.1 4.18E-06 None None None None I None 0 0 None 0 0 None 0 None 0 9.29E-06 0
I/T 31401 Fn3-116 94 rs879001552 0.0797 -1.234 None N 0.198 0.161 None gnomAD-3.1.2 1.31E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 2.06868E-04 0
I/T 31401 Fn3-116 94 rs879001552 0.0797 -1.234 None N 0.198 0.161 None gnomAD-4.0.0 7.81057E-06 None None None None I None 1.69981E-05 0 None 0 0 None 0 0 7.32701E-06 1.35752E-05 2.89017E-05
T/A 32889 Fn3-127 95 rs771323245 0.1031 -0.94 0.002 N 0.287 0.06 0.0986583533028 gnomAD-2.1.1 7.14E-06 None None None None N None 0 2.83E-05 None 0 5.13E-05 None 0 None 0 0 0
T/A 32889 Fn3-127 95 rs771323245 0.1031 -0.94 0.002 N 0.287 0.06 0.0986583533028 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92456E-04 None 0 0 0 0 0
T/A 32889 Fn3-127 95 rs771323245 0.1031 -0.94 0.002 N 0.287 0.06 0.0986583533028 gnomAD-4.0.0 2.56849E-06 None None None None N None 0 1.69641E-05 None 0 2.42718E-05 None 0 0 0 0 0
T/K 32889 Fn3-127 95 rs1693292110 0.1514 None 0.052 N 0.555 0.082 0.126345400529 gnomAD-4.0.0 1.59656E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87195E-06 0 0
T/R 32889 Fn3-127 95 None 0.1326 None 0.162 N 0.536 0.1 0.16115917748 gnomAD-4.0.0 1.59656E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87195E-06 0 0
I/T 33385 Fn3-130 96 None 0.3465 None 0.181 N 0.607 0.173 0.389750110748 gnomAD-4.0.0 1.59918E-06 None None None None I None 0 0 None 0 0 None 0 0 2.87614E-06 0 0
I/V 33781 Fn3-132 93 rs1029128193 0.057 None None N 0.074 0.137 0.141422826196 gnomAD-4.0.0 4.77324E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57334E-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.