Structural position:

  • Domain Type: Fn3
  • Aligned Position: 116
  • 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/A 16834 Fn3-10 84 None 0.2503 None 0.027 N 0.471 0.06 0.317084106153 gnomAD-4.0.0 1.59328E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86171E-06 0 0
V/I 16834 Fn3-10 84 None 0.0794 None None N 0.217 0.051 0.262662153117 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 6.07533E-05 0
P/S 17552 Fn3-15 83 rs1266887478 0.4194 -0.873 1.0 N 0.78 0.351 0.220303561663 gnomAD-2.1.1 4.13E-06 None None None None N None 0 2.96E-05 None 0 0 None 0 None 0 0 0
P/S 17552 Fn3-15 83 rs1266887478 0.4194 -0.873 1.0 N 0.78 0.351 0.220303561663 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/S 17552 Fn3-15 83 rs1266887478 0.4194 -0.873 1.0 N 0.78 0.351 0.220303561663 gnomAD-4.0.0 2.58685E-06 None None None None N None 1.69895E-05 1.71133E-05 None 0 0 None 0 0 0 0 0
V/M 18971 Fn3-25 88 rs373153121 0.2107 -0.517 1.0 N 0.701 0.148 None gnomAD-2.1.1 5.72E-05 None None None None I None 8.27E-05 0 None 0 0 None 6.54E-05 None 4E-05 7.84E-05 1.40568E-04
V/M 18971 Fn3-25 88 rs373153121 0.2107 -0.517 1.0 N 0.701 0.148 None gnomAD-3.1.2 5.26E-05 None None None None I None 9.65E-05 0 0 0 0 None 0 0 4.41E-05 0 4.78469E-04
V/M 18971 Fn3-25 88 rs373153121 0.2107 -0.517 1.0 N 0.701 0.148 None gnomAD-4.0.0 3.71923E-05 None None None None I None 6.6786E-05 0 None 0 0 None 0 0 3.89984E-05 4.39319E-05 8.00794E-05
E/K 20751 Fn3-38 84 rs926520394 0.5657 None 0.999 N 0.753 0.423 0.362758974969 gnomAD-4.0.0 3.18416E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.8659E-05 0
A/G 22924 Fn3-54 84 rs1233193940 0.3056 -0.533 0.958 N 0.538 0.285 0.443999229985 gnomAD-2.1.1 6.38E-05 None None None None I None 0 0 None 0 0 None 0 None 5.77367E-04 0 0
A/G 22924 Fn3-54 84 rs1233193940 0.3056 -0.533 0.958 N 0.538 0.285 0.443999229985 gnomAD-3.1.2 1.32E-05 None None None None I None 0 0 0 0 0 None 1.88857E-04 0 0 0 0
A/G 22924 Fn3-54 84 rs1233193940 0.3056 -0.533 0.958 N 0.538 0.285 0.443999229985 gnomAD-4.0.0 1.31562E-05 None None None None I None 0 0 None 0 0 None 1.88857E-04 0 0 0 0
A/T 22924 Fn3-54 84 None 0.1721 None 0.958 N 0.751 0.257 0.450539155747 gnomAD-4.0.0 1.59294E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86041E-06 0 0
A/V 22924 Fn3-54 84 None 0.2504 None 0.979 N 0.738 0.314 0.497871611283 gnomAD-4.0.0 1.59303E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02645E-05
V/M 25089 Fn3-70 84 rs1004625054 0.1244 None 0.942 N 0.554 0.257 0.280987212366 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/M 25089 Fn3-70 84 rs1004625054 0.1244 None 0.942 N 0.554 0.257 0.280987212366 gnomAD-4.0.0 2.03001E-06 None None None None I None 1.74746E-05 0 None 0 0 None 0 0 1.20495E-06 0 0
A/G 26171 Fn3-78 84 None 0.2029 None 0.117 N 0.349 0.11 0.287603790349 gnomAD-4.0.0 1.59587E-06 None None None None I None 0 0 None 0 0 None 0 2.41663E-04 0 0 0
A/T 26171 Fn3-78 84 rs1706388578 0.0767 None None N 0.117 0.089 0.0806252709748 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
A/T 26171 Fn3-78 84 rs1706388578 0.0767 None None N 0.117 0.089 0.0806252709748 gnomAD-4.0.0 1.86122E-06 None None None None I None 1.33561E-05 1.67017E-05 None 0 0 None 0 0 0 0 1.60339E-05
A/V 26171 Fn3-78 84 rs1706387340 0.1204 None None N 0.119 0.09 0.243972157842 gnomAD-3.1.2 6.58E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
A/V 26171 Fn3-78 84 rs1706387340 0.1204 None None N 0.119 0.09 0.243972157842 gnomAD-4.0.0 6.57774E-06 None None None None I None 2.41499E-05 0 None 0 0 None 0 0 0 0 0
N/K 27253 Fn3-86 84 None 0.37 None 0.285 N 0.167 0.083 0.101711395817 gnomAD-4.0.0 2.73706E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69844E-06 0 1.65667E-05
N/S 27253 Fn3-86 84 rs529055709 0.0784 -0.258 0.002 N 0.105 0.088 0.0884992946249 gnomAD-2.1.1 1.25061E-04 None None None None N None 0 0 None 0 1.80357E-03 None 0 None 0 0 0
N/S 27253 Fn3-86 84 rs529055709 0.0784 -0.258 0.002 N 0.105 0.088 0.0884992946249 gnomAD-3.1.2 7.89E-05 None None None None N None 0 6.55E-05 0 0 2.12519E-03 None 0 0 0 0 0
N/S 27253 Fn3-86 84 rs529055709 0.0784 -0.258 0.002 N 0.105 0.088 0.0884992946249 1000 genomes 5.99042E-04 None None None None N None 0 0 None None 3E-03 0 None None None 0 None
N/S 27253 Fn3-86 84 rs529055709 0.0784 -0.258 0.002 N 0.105 0.088 0.0884992946249 gnomAD-4.0.0 2.97456E-05 None None None None N None 0 1.66733E-05 None 0 1.005E-03 None 0 0 8.47636E-07 0 1.60056E-05
S/A 28335 Fn3-94 84 rs147895770 0.076 -0.495 0.244 N 0.279 0.064 None gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
S/A 28335 Fn3-94 84 rs147895770 0.076 -0.495 0.244 N 0.279 0.064 None gnomAD-3.1.2 4.6E-05 None None None None N None 0 0 0 0 1.3524E-03 None 0 0 0 0 0
S/A 28335 Fn3-94 84 rs147895770 0.076 -0.495 0.244 N 0.279 0.064 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
S/A 28335 Fn3-94 84 rs147895770 0.076 -0.495 0.244 N 0.279 0.064 None gnomAD-4.0.0 4.21361E-05 None None None None N None 0 1.66678E-05 None 0 1.49427E-03 None 0 0 0 0 0
S/L 28335 Fn3-94 84 rs1703498485 0.0896 None 0.001 N 0.179 0.109 0.398581233421 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
S/L 28335 Fn3-94 84 rs1703498485 0.0896 None 0.001 N 0.179 0.109 0.398581233421 gnomAD-4.0.0 6.57505E-06 None None None None N None 0 6.55738E-05 None 0 0 None 0 0 0 0 0
S/C 29418 Fn3-102 84 rs553614377 0.1397 None 1.0 N 0.781 0.426 0.547039986869 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.6E-05 None 0 None 0 0 0
S/Y 29418 Fn3-102 84 rs553614377 0.4275 -0.954 1.0 N 0.837 0.404 None gnomAD-2.1.1 4.02E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 0 0
S/Y 29418 Fn3-102 84 rs553614377 0.4275 -0.954 1.0 N 0.837 0.404 None gnomAD-3.1.2 1.97E-05 None None None None I None 7.24E-05 0 0 0 0 None 0 0 0 0 0
S/Y 29418 Fn3-102 84 rs553614377 0.4275 -0.954 1.0 N 0.837 0.404 None 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
S/Y 29418 Fn3-102 84 rs553614377 0.4275 -0.954 1.0 N 0.837 0.404 None gnomAD-4.0.0 5.12374E-06 None None None None I None 6.75242E-05 0 None 0 0 None 0 0 0 0 0
V/I 31592 Fn3-118 87 rs370918800 0.0796 -0.13 0.127 N 0.267 0.058 None gnomAD-2.1.1 3.58E-05 None None None None I None 1.24018E-04 0 None 0 5.14E-05 None 0 None 0 4.7E-05 0
V/I 31592 Fn3-118 87 rs370918800 0.0796 -0.13 0.127 N 0.267 0.058 None gnomAD-3.1.2 5.91E-05 None None None None I None 9.65E-05 0 0 0 0 None 0 0 7.35E-05 0 0
V/I 31592 Fn3-118 87 rs370918800 0.0796 -0.13 0.127 N 0.267 0.058 None gnomAD-4.0.0 5.20593E-05 None None None None I None 1.46874E-04 0 None 0 2.22906E-05 None 0 0 6.01851E-05 0 1.60128E-05
L/R 33081 Fn3-129 84 rs773795503 0.3165 -0.633 0.864 N 0.814 0.283 0.629112818682 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
L/R 33081 Fn3-129 84 rs773795503 0.3165 -0.633 0.864 N 0.814 0.283 0.629112818682 gnomAD-4.0.0 1.5918E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85912E-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.