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.