Structural position:

  • Domain Type: Ig
  • Aligned Position: 176
  • 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
M/T 2351 Ig-12 85 rs756899805 0.6524 -1.766 0.801 N 0.549 0.41 0.412064437402 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
M/T 2351 Ig-12 85 rs756899805 0.6524 -1.766 0.801 N 0.549 0.41 0.412064437402 gnomAD-4.0.0 1.5906E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
V/A 2704 Ig-16 84 rs1458291508 0.6737 -2.317 0.999 D 0.621 0.423 0.367803931526 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.81E-06 0
V/A 2704 Ig-16 84 rs1458291508 0.6737 -2.317 0.999 D 0.621 0.423 0.367803931526 gnomAD-4.0.0 1.59079E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85664E-06 0 0
V/D 2704 Ig-16 84 None 0.9886 None 1.0 D 0.844 0.472 0.432604763906 gnomAD-4.0.0 1.59079E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85664E-06 0 0
V/F 2704 Ig-16 84 None 0.905 None 1.0 N 0.849 0.424 0.441740949975 gnomAD-4.0.0 1.59079E-06 None None None None N None 0 0 None 0 0 None 1.88189E-05 0 0 0 0
T/A 2967 Ig-19 86 rs1287851348 0.1007 -0.965 0.139 N 0.13 0.316 0.309530620856 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
T/A 2967 Ig-19 86 rs1287851348 0.1007 -0.965 0.139 N 0.13 0.316 0.309530620856 gnomAD-4.0.0 1.59186E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85866E-06 0 0
T/I 2967 Ig-19 86 rs764554139 0.1359 0.159 0.784 N 0.379 0.256 0.55046033382 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
T/I 2967 Ig-19 86 rs764554139 0.1359 0.159 0.784 N 0.379 0.256 0.55046033382 gnomAD-4.0.0 8.21399E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.39166E-04 0
L/P 3433 Ig-24 89 None 0.8568 None 1.0 D 0.77 0.708 0.880682999993 gnomAD-4.0.0 6.84134E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99358E-07 0 0
L/R 3433 Ig-24 89 None 0.6164 None 1.0 D 0.743 0.659 0.85553197916 gnomAD-4.0.0 6.84134E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99358E-07 0 0
V/I 5350 Ig-36 90 rs2080869284 0.1325 None 0.767 N 0.553 0.392 0.656978821447 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.54E-05 0 0 0 None 0 0 0 0 0
V/I 5350 Ig-36 90 rs2080869284 0.1325 None 0.767 N 0.553 0.392 0.656978821447 gnomAD-4.0.0 2.62072E-06 None None None None N None 0 1.72909E-05 None 0 0 None 0 0 0 1.41355E-05 0
V/I 5912 Ig-42 90 rs879030996 0.1333 None 0.767 D 0.565 0.312 None 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
V/I 5912 Ig-42 90 rs879030996 0.1333 None 0.767 D 0.565 0.312 None gnomAD-4.0.0 2.49949E-06 None None None None N None 0 0 None 0 0 None 0 0 2.55864E-06 0 1.6153E-05
V/I 7037 Ig-54 90 None 0.1006 None 0.002 N 0.515 0.237 0.566335693254 gnomAD-4.0.0 1.59646E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86786E-06 0 0
V/D 8919 Ig-74 90 rs1560596105 0.9582 None 1.0 D 0.891 0.873 0.946330719992 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
V/D 8919 Ig-74 90 rs1560596105 0.9582 None 1.0 D 0.891 0.873 0.946330719992 gnomAD-4.0.0 1.59417E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86407E-06 0 0
V/I 8919 Ig-74 90 rs774905023 0.1046 -0.874 0.997 N 0.746 0.416 0.707940124399 gnomAD-2.1.1 1.61E-05 None None None None N None 0 5.82E-05 None 0 0 None 3.29E-05 None 0 8.92E-06 0
V/I 8919 Ig-74 90 rs774905023 0.1046 -0.874 0.997 N 0.746 0.416 0.707940124399 gnomAD-4.0.0 8.90201E-06 None None None None N None 0 4.48149E-05 None 0 0 None 0 0 8.10059E-06 2.32396E-05 0
V/L 8919 Ig-74 90 None 0.5958 None 0.997 D 0.781 0.499 0.694160407388 gnomAD-4.0.0 6.8477E-07 None None None None N None 2.99419E-05 0 None 0 0 None 0 0 0 0 0
I/V 10073 Ig-85 85 None 0.1769 None 0.219 None 0.167 0.105 0.128392430309 gnomAD-4.0.0 1.59158E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02352E-05
V/E 13775 Ig-87 92 None 0.9835 None 1.0 D 0.756 0.841 0.905287540064 gnomAD-4.0.0 1.61995E-06 None None None None I None 0 0 None 0 0 None 0 0 2.90757E-06 0 0
V/A 14137 Ig-91 84 None 0.953 None 0.76 D 0.559 0.506 0.648165742856 gnomAD-4.0.0 1.61779E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.48447E-05 0
V/I 14137 Ig-91 84 rs1168812566 0.1734 None 0.99 D 0.527 0.401 0.602001837285 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
V/I 14137 Ig-91 84 rs1168812566 0.1734 None 0.99 D 0.527 0.401 0.602001837285 gnomAD-4.0.0 1.87117E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54797E-06 0 0
V/A 14314 Ig-93 84 rs1317914021 0.5795 -1.999 0.517 D 0.602 0.436 0.650830185303 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
V/A 14314 Ig-93 84 rs1317914021 0.5795 -1.999 0.517 D 0.602 0.436 0.650830185303 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
V/A 14314 Ig-93 84 rs1317914021 0.5795 -1.999 0.517 D 0.602 0.436 0.650830185303 gnomAD-4.0.0 1.85958E-06 None None None None N None 2.67051E-05 0 None 0 0 None 0 0 8.47777E-07 0 0
V/I 14314 Ig-93 84 rs376881525 0.0868 -0.769 0.003 N 0.315 0.119 None gnomAD-2.1.1 2.41E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.33E-05 0
V/I 14314 Ig-93 84 rs376881525 0.0868 -0.769 0.003 N 0.315 0.119 None 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
V/I 14314 Ig-93 84 rs376881525 0.0868 -0.769 0.003 N 0.315 0.119 None gnomAD-4.0.0 3.96707E-05 None None None None N None 0 0 None 0 0 None 0 0 5.34092E-05 0 1.602E-05
V/E 14403 Ig-94 85 rs1328335673 0.9763 -3.079 0.999 D 0.825 0.653 0.817904248791 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
V/E 14403 Ig-94 85 rs1328335673 0.9763 -3.079 0.999 D 0.825 0.653 0.817904248791 gnomAD-4.0.0 6.8466E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99828E-07 0 0
V/G 14403 Ig-94 85 None 0.8586 None 0.999 D 0.798 0.678 0.81560881684 gnomAD-4.0.0 6.8466E-07 None None None None N None 0 2.24085E-05 None 0 0 None 0 0 0 0 0
V/L 14403 Ig-94 85 None 0.8791 None 0.994 D 0.521 0.51 0.59496020979 gnomAD-4.0.0 1.36929E-06 None None None None N None 0 0 None 0 0 None 0 1.73853E-04 8.99818E-07 0 0
V/D 14759 Ig-98 85 None 0.9957 None 0.999 D 0.849 0.641 0.756160954892 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
L/P 35694 Ig-167 88 rs761325938 0.4879 -1.633 0.966 N 0.421 0.493 0.725424417769 gnomAD-2.1.1 8.08E-06 None None None None N None 0 0 None 0 0 None 6.57E-05 None 0 0 0
L/P 35694 Ig-167 88 rs761325938 0.4879 -1.633 0.966 N 0.421 0.493 0.725424417769 gnomAD-4.0.0 6.36961E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.74168E-05 0
L/V 35694 Ig-167 88 rs769369764 0.1028 -1.366 0.002 N 0.089 0.026 0.104622674875 gnomAD-2.1.1 7.89E-05 None None None None N None 0 0 None 0 9.77769E-04 None 0 None 0 7.84E-06 2.81849E-04
L/V 35694 Ig-167 88 rs769369764 0.1028 -1.366 0.002 N 0.089 0.026 0.104622674875 gnomAD-3.1.2 5.26E-05 None None None None N None 2.41E-05 6.55E-05 0 0 9.62649E-04 None 0 0 1.47E-05 0 0
L/V 35694 Ig-167 88 rs769369764 0.1028 -1.366 0.002 N 0.089 0.026 0.104622674875 gnomAD-4.0.0 4.40085E-05 None None None None N None 1.3328E-05 1.66895E-05 None 0 1.2038E-03 None 0 0 1.10207E-05 1.09955E-05 1.60082E-05

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.