Structural position:

  • Domain Type: Ig
  • Aligned Position: 111
  • 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
P/R 52 Ig-1 47 rs761625399 0.252 0.137 1.0 N 0.751 0.537 0.318828661733 gnomAD-2.1.1 7.96E-06 None None None -0.317(TCAP) N None 0 0 None 0 0 None 0 None 0 1.76E-05 0
P/R 52 Ig-1 47 rs761625399 0.252 0.137 1.0 N 0.751 0.537 0.318828661733 gnomAD-4.0.0 2.73627E-06 None None None -0.317(TCAP) N None 0 0 None 0 0 None 0 0 3.59717E-06 0 0
P/R 1602 Ig-7 47 None 0.4129 None 1.0 N 0.58 0.601 0.521384976177 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
P/S 1602 Ig-7 47 rs2092321962 0.2489 None 1.0 N 0.492 0.492 0.433269665224 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
N/K 1749 Ig-8 47 None 0.9013 None 1.0 N 0.621 0.353 0.251639045875 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
N/S 1749 Ig-8 47 rs1304904777 0.1588 None 0.999 N 0.504 0.407 0.252162846088 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 2.88351E-04 0 None 0 0 0 0 0
N/S 1749 Ig-8 47 rs1304904777 0.1588 None 0.999 N 0.504 0.407 0.252162846088 gnomAD-4.0.0 6.56883E-06 None None None None I None 0 0 None 2.88351E-04 0 None 0 0 0 0 0
D/G 2218 Ig-11 45 None 0.1245 None 0.892 N 0.377 0.255 0.134241683229 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
D/E 2489 Ig-14 45 rs2091842638 0.1197 None 0.046 N 0.307 0.083 0.146414634003 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78469E-04
D/E 2489 Ig-14 45 rs2091842638 0.1197 None 0.046 N 0.307 0.083 0.146414634003 gnomAD-4.0.0 3.84234E-06 None None None None N None 0 1.69497E-05 None 0 0 None 0 0 2.39198E-06 0 2.84236E-05
D/N 2489 Ig-14 45 None 0.1007 None 0.982 N 0.422 0.255 0.348983352498 gnomAD-4.0.0 6.84111E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99318E-07 0 0
S/P 2576 Ig-15 44 rs1192243429 0.0701 None None N 0.131 0.072 0.0297737177859 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
S/P 2576 Ig-15 44 rs1192243429 0.0701 None None N 0.131 0.072 0.0297737177859 gnomAD-4.0.0 6.57376E-06 None None None None N None 0 6.55136E-05 None 0 0 None 0 0 0 0 0
S/Y 2576 Ig-15 44 rs1420811529 0.2044 None 0.822 N 0.305 0.064 0.344251166708 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
N/D 2663 Ig-16 43 rs372885019 0.0776 0.29 None N 0.111 0.105 None gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.8E-06 0
N/D 2663 Ig-16 43 rs372885019 0.0776 0.29 None N 0.111 0.105 None 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
N/D 2663 Ig-16 43 rs372885019 0.0776 0.29 None N 0.111 0.105 None gnomAD-4.0.0 3.84198E-06 None None None None N None 0 0 None 0 0 None 0 0 7.17528E-06 0 0
N/S 2663 Ig-16 43 rs1184494680 0.0713 0.258 0.012 N 0.289 0.16 0.0611884634855 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 5.45E-05 None 0 None 0 0 0
N/S 2663 Ig-16 43 rs1184494680 0.0713 0.258 0.012 N 0.289 0.16 0.0611884634855 gnomAD-4.0.0 1.59057E-06 None None None None N None 0 0 None 0 2.77454E-05 None 0 0 0 0 0
E/G 2751 Ig-17 45 rs368235451 0.0885 -0.086 0.024 N 0.335 0.241 None gnomAD-2.1.1 3.19E-05 None None None None N None 1.14863E-04 0 None 0 0 None 0 None 0 0 0
E/G 2751 Ig-17 45 rs368235451 0.0885 -0.086 0.024 N 0.335 0.241 None 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
E/G 2751 Ig-17 45 rs368235451 0.0885 -0.086 0.024 N 0.335 0.241 None gnomAD-4.0.0 3.15978E-05 None None None None N None 1.33461E-05 0 None 0 0 None 0 0 4.15251E-05 0 1.60031E-05
D/G 3012 Ig-20 44 rs2090980591 0.4281 None 1.0 N 0.504 0.535 0.1749357433 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.30941E-04 0 0 0 None 0 0 0 0 0
D/G 3012 Ig-20 44 rs2090980591 0.4281 None 1.0 N 0.504 0.535 0.1749357433 gnomAD-4.0.0 2.47834E-06 None None None None N None 0 3.33389E-05 None 0 0 None 0 0 1.69491E-06 0 0
D/N 3012 Ig-20 44 None 0.2274 None 1.0 N 0.555 0.379 0.195762928549 gnomAD-4.0.0 1.5906E-06 None None None None N None 0 0 None 0 2.77546E-05 None 0 0 0 0 0
D/E 3101 Ig-21 44 rs148676491 0.1883 0.098 0.003 N 0.2 0.07 0.0716867268079 gnomAD-2.1.1 1.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.64E-05 0
D/E 3101 Ig-21 44 rs148676491 0.1883 0.098 0.003 N 0.2 0.07 0.0716867268079 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
D/E 3101 Ig-21 44 rs148676491 0.1883 0.098 0.003 N 0.2 0.07 0.0716867268079 gnomAD-4.0.0 1.48698E-05 None None None None N None 0 0 None 0 0 None 1.56143E-05 0 1.77964E-05 0 3.20092E-05
D/N 3101 Ig-21 44 None 0.1642 None 0.722 N 0.373 0.231 0.101711395817 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
E/K 3192 Ig-22 46 rs868040631 0.2546 None 0.984 N 0.489 0.201 0.212008924253 gnomAD-4.0.0 1.59056E-06 None None None None N None 5.65163E-05 0 None 0 0 None 0 0 0 0 0
R/L 3388 Ig-24 44 None 0.2952 None 0.82 N 0.284 0.343 0.604606306746 gnomAD-4.0.0 6.84125E-07 None None None None N None 2.98704E-05 0 None 0 0 None 0 0 0 0 0
R/Q 3388 Ig-24 44 rs187703540 0.1344 0.182 0.91 N 0.233 0.179 None gnomAD-2.1.1 7.165E-04 None None None None N None 2.80404E-04 5.65E-05 None 0 9.19506E-03 None 2.6137E-04 None 0 7.79E-06 1.38927E-04
R/Q 3388 Ig-24 44 rs187703540 0.1344 0.182 0.91 N 0.233 0.179 None gnomAD-3.1.2 5.12901E-04 None None None None N None 2.65675E-04 0 0 0 1.1946E-02 None 0 0 1.47E-05 6.21118E-04 4.78469E-04
R/Q 3388 Ig-24 44 rs187703540 0.1344 0.182 0.91 N 0.233 0.179 None 1000 genomes 3.79393E-03 None None None None N None 0 0 None None 1.88E-02 0 None None None 0 None
R/Q 3388 Ig-24 44 rs187703540 0.1344 0.182 0.91 N 0.233 0.179 None gnomAD-4.0.0 2.17483E-04 None None None None N None 2.5332E-04 3.33344E-05 None 0 6.19954E-03 None 0 0 5.08503E-06 2.19597E-04 4.15987E-04
R/W 3388 Ig-24 44 rs758680640 0.3077 -0.461 0.999 D 0.22 0.483 0.431379191433 gnomAD-2.1.1 2.13E-05 None None None None N None 0 8.47E-05 None 0 5.02E-05 None 3.27E-05 None 0 7.79E-06 0
R/W 3388 Ig-24 44 rs758680640 0.3077 -0.461 0.999 D 0.22 0.483 0.431379191433 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.55E-05 0 0 1.92678E-04 None 0 0 0 0 0
R/W 3388 Ig-24 44 rs758680640 0.3077 -0.461 0.999 D 0.22 0.483 0.431379191433 gnomAD-4.0.0 4.0897E-05 None None None None N None 1.33504E-05 8.33556E-05 None 0 2.22965E-05 None 0 0 4.83078E-05 1.09818E-05 1.60061E-05
E/D 3704 Ig-26 45 None 0.1217 None None None None 0.022 None gnomAD-4.0.0 8.40225E-06 None None None None N None 0 0 None 0 0 None 0 0 7.87501E-06 0 3.66327E-05
E/K 3704 Ig-26 45 rs769980091 0.0805 0.77 None None None 0.045 None gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.66E-05 0
E/K 3704 Ig-26 45 rs769980091 0.0805 0.77 None None None 0.045 None gnomAD-4.0.0 1.0263E-05 None None None None N None 2.98757E-05 2.23654E-05 None 0 2.52067E-05 None 0 1.7343E-04 8.095E-06 0 3.31301E-05
A/P 3864 Ig-27 45 rs748910775 0.1828 0.091 0.001 N 0.232 0.08 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
A/P 3864 Ig-27 45 rs748910775 0.1828 0.091 0.001 N 0.232 0.08 None gnomAD-4.0.0 6.84199E-07 None None None None N None 0 2.23634E-05 None 0 0 None 0 0 0 0 0
A/T 3864 Ig-27 45 rs748910775 0.0946 None None N 0.145 0.024 None 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
A/T 3864 Ig-27 45 rs748910775 0.0946 None None N 0.145 0.024 None gnomAD-4.0.0 4.33793E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93331E-06 0 0
D/E 4744 Ig-30 45 rs55906845 0.1907 -0.054 0.061 N 0.181 0.111 0.195762928549 gnomAD-2.1.1 2.28665E-04 None None None None N None 4.14E-05 5.66E-05 None 0 0 None 0 None 0 4.60995E-04 2.81057E-04
D/E 4744 Ig-30 45 rs55906845 0.1907 -0.054 0.061 N 0.181 0.111 0.195762928549 gnomAD-3.1.2 1.77456E-04 None None None None N None 2.41E-05 6.55E-05 0 0 0 None 0 0 3.67463E-04 0 0
D/E 4744 Ig-30 45 rs55906845 0.1907 -0.054 0.061 N 0.181 0.111 0.195762928549 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
D/E 4744 Ig-30 45 rs55906845 0.1907 -0.054 0.061 N 0.181 0.111 0.195762928549 gnomAD-4.0.0 2.34872E-04 None None None None N None 1.33294E-05 2.00047E-04 None 0 0 None 1.5624E-05 1.65017E-04 3.01755E-04 0 1.28066E-04
D/G 4744 Ig-30 45 None 0.3045 None 0.92 N 0.335 0.323 0.193865811164 gnomAD-4.0.0 4.78999E-06 None None None None N None 0 0 None 0 0 None 0 0 0 8.11651E-05 0
D/V 4744 Ig-30 45 rs1241199669 0.5356 None 0.988 N 0.399 0.522 0.369495900351 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
D/V 4744 Ig-30 45 rs1241199669 0.5356 None 0.988 N 0.399 0.522 0.369495900351 gnomAD-4.0.0 6.57142E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46981E-05 0 0
P/H 4839 Ig-31 45 rs1478089830 0.1493 -0.191 0.693 N 0.392 0.087 0.256793551483 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14837E-04 0 None 0 0 None 0 None 0 0 0
P/H 4839 Ig-31 45 rs1478089830 0.1493 -0.191 0.693 N 0.392 0.087 0.256793551483 gnomAD-3.1.2 1.31E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
P/H 4839 Ig-31 45 rs1478089830 0.1493 -0.191 0.693 N 0.392 0.087 0.256793551483 gnomAD-4.0.0 1.31439E-05 None None None None N None 4.82602E-05 0 None 0 0 None 0 0 0 0 0
P/T 4839 Ig-31 45 None 0.0857 None 0.061 N 0.315 0.057 0.178374595973 gnomAD-4.0.0 1.59113E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85802E-06 0 0
K/R 4932 Ig-32 45 None 0.0819 None 0.035 N 0.208 0.076 0.166414681773 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
D/E 5401 Ig-37 45 rs1349486698 0.0982 None 0.183 N 0.218 0.083 0.19670166235 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
D/E 5401 Ig-37 45 rs1349486698 0.0982 None 0.183 N 0.218 0.083 0.19670166235 gnomAD-4.0.0 6.84299E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15945E-05 0
S/G 5588 Ig-39 46 None 0.0619 None None N 0.093 0.095 0.0666544352282 gnomAD-4.0.0 6.84195E-07 None None None None N None 0 0 None 0 2.5194E-05 None 0 0 0 0 0
S/N 5588 Ig-39 46 None 0.0653 None None N 0.125 0.08 0.0482279557977 gnomAD-4.0.0 1.5912E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85819E-06 0 0
S/R 5588 Ig-39 46 rs1203421858 0.1277 None None N 0.222 0.111 0.156986980423 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
S/R 5588 Ig-39 46 rs1203421858 0.1277 None None N 0.222 0.111 0.156986980423 gnomAD-4.0.0 1.17736E-05 None None None None N None 0 0 None 0 0 None 0 0 1.61043E-05 0 0
A/T 6525 Ig-49 45 rs1578118075 0.0739 None 0.134 N 0.257 0.141 0.101711395817 gnomAD-4.0.0 1.59256E-06 None None None None N None 0 0 None 0 2.7767E-05 None 0 0 0 0 0
A/V 6525 Ig-49 45 None 0.1156 None 0.061 N 0.168 0.183 0.218112801441 gnomAD-4.0.0 1.59254E-06 None None None None N None 0 2.28896E-05 None 0 0 None 0 0 0 0 0
D/E 6712 Ig-51 46 None 0.0784 None None N 0.132 0.082 0.101711395817 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
E/G 6899 Ig-53 46 rs777803266 0.1378 -0.193 0.989 N 0.391 0.338 0.288727942641 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
E/G 6899 Ig-53 46 rs777803266 0.1378 -0.193 0.989 N 0.391 0.338 0.288727942641 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
E/G 6899 Ig-53 46 rs777803266 0.1378 -0.193 0.989 N 0.391 0.338 0.288727942641 gnomAD-4.0.0 3.8452E-06 None None None None N None 3.38409E-05 0 None 0 0 None 0 0 0 1.34109E-05 0
G/E 7559 Ig-60 45 rs2078443515 0.7596 None 1.0 N 0.705 0.332 0.288352970974 gnomAD-4.0.0 1.59178E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85951E-06 0 0
W/C 7653 Ig-61 46 None 0.468 None 0.958 N 0.269 0.275 0.266843984389 gnomAD-4.0.0 6.84489E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16004E-05 0
S/N 7933 Ig-64 45 rs748211413 0.0702 0.051 0.049 N 0.14 0.086 0.0716867268079 gnomAD-2.1.1 3.62E-05 None None None None N None 0 0 None 0 4.45236E-04 None 0 None 0 8.89E-06 0
S/N 7933 Ig-64 45 rs748211413 0.0702 0.051 0.049 N 0.14 0.086 0.0716867268079 gnomAD-4.0.0 5.4739E-06 None None None None N None 0 0 None 0 1.76349E-04 None 0 0 8.99504E-07 0 0
S/R 7933 Ig-64 45 rs971822039 0.1107 -0.056 None N 0.092 0.127 0.0806252709748 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
S/R 7933 Ig-64 45 rs971822039 0.1107 -0.056 None N 0.092 0.127 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
G/D 8500 Ig-70 45 None 0.8938 None 1.0 N 0.612 0.279 0.198526703765 gnomAD-4.0.0 1.36857E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99554E-07 0 1.65695E-05
G/S 8500 Ig-70 45 rs779848708 0.2556 -0.366 1.0 N 0.619 0.248 0.168933306366 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
G/S 8500 Ig-70 45 rs779848708 0.2556 -0.366 1.0 N 0.619 0.248 0.168933306366 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
G/S 8500 Ig-70 45 rs779848708 0.2556 -0.366 1.0 N 0.619 0.248 0.168933306366 gnomAD-4.0.0 2.56258E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78725E-06 0 0
S/G 8594 Ig-71 46 None 0.0639 None None N 0.137 0.156 0.0551355673512 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
S/N 8594 Ig-71 46 rs759108676 0.0682 -0.025 None N 0.16 0.051 0.0297737177859 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
S/N 8594 Ig-71 46 rs759108676 0.0682 -0.025 None N 0.16 0.051 0.0297737177859 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
S/R 8594 Ig-71 46 None 0.1584 None 0.138 N 0.309 0.149 0.0884992946249 gnomAD-4.0.0 6.84299E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99565E-07 0 0
D/A 8781 Ig-73 46 rs2077152071 0.1272 None 0.328 N 0.369 0.238 0.250039746154 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78011E-04
D/A 8781 Ig-73 46 rs2077152071 0.1272 None 0.328 N 0.369 0.238 0.250039746154 gnomAD-4.0.0 6.57168E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.78011E-04
D/N 8781 Ig-73 46 None 0.083 None 0.604 N 0.343 0.328 0.143124449307 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
N/K 8874 Ig-74 45 None 0.1177 None None N 0.14 0.129 0.0716867268079 gnomAD-4.0.0 6.84312E-07 None None None None N None 0 0 None 3.82819E-05 0 None 0 0 0 0 0
N/S 8874 Ig-74 45 rs1222843561 0.0563 0.441 None N 0.084 0.105 0.0138822411134 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 4.65E-05 0 0
N/S 8874 Ig-74 45 rs1222843561 0.0563 0.441 None N 0.084 0.105 0.0138822411134 gnomAD-4.0.0 1.59169E-06 None None None None N None 0 0 None 0 0 None 1.88345E-05 0 0 0 0
G/A 9441 Ig-80 45 None 0.2108 None 0.103 None 0.284 0.168 0.16115917748 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
G/R 9441 Ig-80 45 rs397517529 0.2859 -0.067 0.988 None 0.449 0.26 0.399017061211 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 1.11297E-04 None 3.27E-05 None 0 0 1.65399E-04
G/R 9441 Ig-80 45 rs397517529 0.2859 -0.067 0.988 None 0.449 0.26 0.399017061211 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
G/R 9441 Ig-80 45 rs397517529 0.2859 -0.067 0.988 None 0.449 0.26 0.399017061211 gnomAD-4.0.0 8.05581E-06 None None None None N None 1.33529E-05 0 None 0 2.22846E-05 None 0 0 5.93293E-06 3.29381E-05 1.60087E-05
D/G 9945 Ig-84 46 rs763249086 0.141 0.068 0.062 None 0.347 0.109 0.152612264143 gnomAD-2.1.1 8.14E-06 None None None None N None 0 0 None 0 0 None 3.3E-05 None 0 9.01E-06 0
D/G 9945 Ig-84 46 rs763249086 0.141 0.068 0.062 None 0.347 0.109 0.152612264143 gnomAD-4.0.0 2.05457E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80015E-06 1.1622E-05 0
G/D 10032 Ig-85 44 None 0.6385 None 0.013 None 0.284 0.118 0.0846915920261 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
G/R 10032 Ig-85 44 rs1336921459 0.8073 None 0.928 None 0.554 0.25 0.307332253619 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
Q/E 10121 Ig-86 44 rs1433870889 0.1161 0.387 0.047 None 0.141 0.227 0.0611884634855 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
Q/E 10121 Ig-86 44 rs1433870889 0.1161 0.387 0.047 None 0.141 0.227 0.0611884634855 gnomAD-4.0.0 4.77259E-06 None None None None N None 0 0 None 0 8.31762E-05 None 0 0 0 0 0
Q/H 10121 Ig-86 44 rs1366841002 0.5403 0.057 0.794 None 0.229 0.158 0.0846915920261 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
Q/H 10121 Ig-86 44 rs1366841002 0.5403 0.057 0.794 None 0.229 0.158 0.0846915920261 gnomAD-4.0.0 1.59086E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
D/G 13919 Ig-89 44 rs2060334191 0.314 None 0.457 N 0.539 0.195 0.185906805712 gnomAD-4.0.0 6.56463E-06 None None None None I None 0 0 None 0 1.12816E-04 None 0 0 0 0 0
P/A 14008 Ig-90 44 rs1455864622 0.4062 0.079 0.999 N 0.682 0.332 0.300449992093 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
P/A 14008 Ig-90 44 rs1455864622 0.4062 0.079 0.999 N 0.682 0.332 0.300449992093 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
P/A 14008 Ig-90 44 rs1455864622 0.4062 0.079 0.999 N 0.682 0.332 0.300449992093 gnomAD-4.0.0 6.57644E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47076E-05 0 0
P/H 14008 Ig-90 44 rs751709914 0.8033 0.265 1.0 N 0.754 0.382 0.424789488895 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 6.59E-05 None 0 0 0
P/H 14008 Ig-90 44 rs751709914 0.8033 0.265 1.0 N 0.754 0.382 0.424789488895 gnomAD-4.0.0 5.47761E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99795E-07 8.1384E-05 0
P/L 14008 Ig-90 44 rs751709914 0.6935 0.121 1.0 N 0.719 0.401 0.482574385019 gnomAD-2.1.1 2.86E-05 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 4.69E-05 0
P/L 14008 Ig-90 44 rs751709914 0.6935 0.121 1.0 N 0.719 0.401 0.482574385019 gnomAD-3.1.2 4.6E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 8.83E-05 0 0
P/L 14008 Ig-90 44 rs751709914 0.6935 0.121 1.0 N 0.719 0.401 0.482574385019 gnomAD-4.0.0 3.90688E-05 None None None None N None 2.67222E-05 0 None 0 0 None 0 0 4.91796E-05 0 4.80692E-05
P/S 14008 Ig-90 44 None 0.6545 None 1.0 N 0.696 0.274 0.302459207581 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
P/S 14273 Ig-93 43 rs1440872005 0.0777 -0.251 None N 0.137 0.098 0.0401082797425 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/S 14273 Ig-93 43 rs1440872005 0.0777 -0.251 None N 0.137 0.098 0.0401082797425 gnomAD-4.0.0 1.59217E-06 None None None None N None 0 2.28749E-05 None 0 0 None 0 0 0 0 0
P/L 14362 Ig-94 44 None 0.1633 None 0.993 N 0.563 0.384 0.458917189328 gnomAD-4.0.0 1.59968E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87579E-06 0 0
D/N 14451 Ig-95 44 rs768931150 0.0937 0.276 0.993 N 0.613 0.373 0.464442853059 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
D/N 14451 Ig-95 44 rs768931150 0.0937 0.276 0.993 N 0.613 0.373 0.464442853059 gnomAD-4.0.0 3.42159E-06 None None None None N None 0 2.23654E-05 None 0 0 None 0 3.47102E-04 8.99603E-07 1.15942E-05 0
K/R 14629 Ig-97 44 None 0.0971 None 0.904 N 0.408 0.146 0.26547132957 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
P/L 14718 Ig-98 44 rs761687390 0.1368 0.097 0.986 D 0.54 0.403 0.396794106654 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
P/L 14718 Ig-98 44 rs761687390 0.1368 0.097 0.986 D 0.54 0.403 0.396794106654 gnomAD-4.0.0 1.37036E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80046E-06 0 0
D/N 14807 Ig-99 43 rs753053245 0.0932 0.337 0.965 N 0.599 0.285 0.194818534648 gnomAD-2.1.1 1.08E-05 None None None None N None 4.14E-05 0 None 0 0 None 3.28E-05 None 0 7.84E-06 0
D/N 14807 Ig-99 43 rs753053245 0.0932 0.337 0.965 N 0.599 0.285 0.194818534648 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
D/N 14807 Ig-99 43 rs753053245 0.0932 0.337 0.965 N 0.599 0.285 0.194818534648 gnomAD-4.0.0 2.60515E-05 None None None None N None 1.33622E-05 0 None 0 0 None 0 0 2.96846E-05 5.49716E-05 1.60349E-05
K/N 14896 Ig-100 44 rs2058754432 0.3751 None 1.0 N 0.665 0.23 0.171388866994 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
K/N 14896 Ig-100 44 rs2058754432 0.3751 None 1.0 N 0.665 0.23 0.171388866994 gnomAD-4.0.0 6.58224E-06 None None None None N None 2.41453E-05 0 None 0 0 None 0 0 0 0 0
K/R 14896 Ig-100 44 rs867080281 0.1003 None 0.999 N 0.529 0.26 0.256283259241 gnomAD-4.0.0 3.60097E-06 None None None None N None 1.90042E-04 0 None 0 0 None 0 0 0 0 0
D/E 15163 Ig-103 44 rs755689835 0.1391 0.124 0.046 N 0.325 0.05 0.170165803431 gnomAD-2.1.1 4.04E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
D/E 15163 Ig-103 44 rs755689835 0.1391 0.124 0.046 N 0.325 0.05 0.170165803431 gnomAD-3.1.2 3.95E-05 None None None None N None 1.44949E-04 0 0 0 0 None 0 0 0 0 0
D/E 15163 Ig-103 44 rs755689835 0.1391 0.124 0.046 N 0.325 0.05 0.170165803431 gnomAD-4.0.0 1.28357E-05 None None None None N None 1.69469E-04 0 None 0 0 None 0 0 0 0 0
D/N 15163 Ig-103 44 rs2058223645 0.0982 None 0.322 N 0.327 0.248 0.227260227426 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
D/N 15163 Ig-103 44 rs2058223645 0.0982 None 0.322 N 0.327 0.248 0.227260227426 gnomAD-4.0.0 6.58597E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47323E-05 0 0
N/K 15345 Ig-105 44 None 0.1346 None None N 0.114 0.11 0.0884992946249 gnomAD-4.0.0 1.3695E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80005E-06 0 0
N/S 15345 Ig-105 44 None 0.0801 None 0.101 N 0.299 0.097 0.126345400529 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
D/E 15523 Ig-107 44 rs1553713980 0.2582 None 1.0 N 0.418 0.267 0.355034743287 gnomAD-4.0.0 1.4345E-05 None None None None N None 0 0 None 0 0 None 0 2.17812E-03 0 0 0
M/I 30571 Ig-149 40 rs1284689627 0.2825 0.386 0.01 N 0.132 0.145 0.215869574891 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.65508E-04
M/I 30571 Ig-149 40 rs1284689627 0.2825 0.386 0.01 N 0.132 0.145 0.215869574891 gnomAD-4.0.0 1.5912E-06 None None None None N None 0 0 None 0 0 None 0 2.41196E-04 0 0 0
M/T 30571 Ig-149 40 rs1392457168 0.2016 None 0.01 N 0.139 0.166 0.264547087235 gnomAD-4.0.0 1.36843E-06 None None None None N None 2.98829E-05 0 None 0 0 None 0 0 8.99489E-07 0 0
M/V 30571 Ig-149 40 rs777664993 0.0991 0.312 0.065 N 0.143 0.156 0.183819452728 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
M/V 30571 Ig-149 40 rs777664993 0.0991 0.312 0.065 N 0.143 0.156 0.183819452728 gnomAD-4.0.0 4.10525E-06 None None None None N None 2.98829E-05 0 None 0 0 None 0 0 0 5.79683E-05 0
R/Q 33145 Ig-156 45 rs371531675 0.1896 0.128 1.0 N 0.72 0.208 None gnomAD-2.1.1 4.28E-05 None None None None N None 2.48118E-04 2.83E-05 None 0 0 None 0 None 0 3.12E-05 1.4041E-04
R/Q 33145 Ig-156 45 rs371531675 0.1896 0.128 1.0 N 0.72 0.208 None gnomAD-3.1.2 6.58E-05 None None None None N None 7.24E-05 3.93443E-04 0 0 0 None 0 0 1.47E-05 0 0
R/Q 33145 Ig-156 45 rs371531675 0.1896 0.128 1.0 N 0.72 0.208 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
R/Q 33145 Ig-156 45 rs371531675 0.1896 0.128 1.0 N 0.72 0.208 None gnomAD-4.0.0 4.58588E-05 None None None None N None 8.00107E-05 1.16717E-04 None 0 2.22876E-05 None 0 0 4.32304E-05 1.09815E-05 1.28053E-04
R/W 33145 Ig-156 45 rs1338284042 0.4583 -0.461 1.0 N 0.757 0.299 0.258283824007 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
R/W 33145 Ig-156 45 rs1338284042 0.4583 -0.461 1.0 N 0.757 0.299 0.258283824007 gnomAD-4.0.0 5.47384E-06 None None None None N None 0 4.47387E-05 None 0 5.0388E-05 None 0 0 3.59794E-06 0 0
L/S 33541 Ig-158 46 rs1283891499 0.094 -0.221 0.009 N 0.128 0.245 0.68565156927 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.89E-06 0
L/S 33541 Ig-158 46 rs1283891499 0.094 -0.221 0.009 N 0.128 0.245 0.68565156927 gnomAD-4.0.0 1.59168E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85884E-06 0 0
G/S 33640 Ig-159 45 None 0.1751 None 0.999 N 0.469 0.257 0.107399877778 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
G/V 33640 Ig-159 45 rs767492660 0.6114 0.206 0.944 N 0.475 0.268 0.492611691308 gnomAD-2.1.1 8.04E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 8.89E-06 0
G/V 33640 Ig-159 45 rs767492660 0.6114 0.206 0.944 N 0.475 0.268 0.492611691308 gnomAD-4.0.0 3.18266E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 2.85837E-06 0 0
E/D 35649 Ig-167 43 rs764693838 0.1326 0.051 None N 0.181 0.065 0.117506650769 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
G/E 35943 Ig-169 47 None 0.2556 None 1.0 N 0.684 0.41 0.292423486923 gnomAD-4.0.0 2.40064E-06 None None None -2.046(OBSL1) -0.21(OBSCN) N None 0 0 None 0 0 None 0 0 1.3125E-06 0 3.66327E-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.