Structural position:

  • Domain Type: Ig
  • Aligned Position: 102
  • 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
T/P 50 Ig-1 45 rs1217255349 0.2174 -0.272 0.523 N 0.295 0.133 0.29908675 gnomAD-2.1.1 3.19E-05 None None None 0.057(TCAP) N None 1.15207E-04 0 None 0 0 None 0 None 0 0 0
T/P 50 Ig-1 45 rs1217255349 0.2174 -0.272 0.523 N 0.295 0.133 0.29908675 gnomAD-3.1.2 1.32E-05 None None None 0.057(TCAP) N None 4.84E-05 0 0 0 0 None 0 0 0 0 0
T/P 50 Ig-1 45 rs1217255349 0.2174 -0.272 0.523 N 0.295 0.133 0.29908675 gnomAD-4.0.0 1.31744E-05 None None None 0.057(TCAP) N None 4.84097E-05 0 None 0 0 None 0 0 0 0 0
T/S 50 Ig-1 45 None 0.1036 None None N 0.26 0.07 0.12421724 gnomAD-4.0.0 1.20032E-06 None None None -0.183(TCAP) N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
I/M 987 Ig-3 45 rs1447507348 0.142 None 0.437 N 0.301 0.287 0.17493574 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
I/M 987 Ig-3 45 rs1447507348 0.142 None 0.437 N 0.301 0.287 0.17493574 gnomAD-4.0.0 1.31404E-05 None None None None N None 0 0 None 0 0 None 0 0 2.93962E-05 0 0
I/T 987 Ig-3 45 None 0.3274 None 0.896 N 0.384 0.379 0.5121924 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
I/V 987 Ig-3 45 rs1363179107 0.1195 -0.042 0.437 N 0.295 0.146 0.3531251 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.84E-06 0
I/V 987 Ig-3 45 rs1363179107 0.1195 -0.042 0.437 N 0.295 0.146 0.3531251 gnomAD-4.0.0 1.36815E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7986E-06 0 0
F/L 3283 Ig-23 45 rs780860026 0.9895 -0.302 0.999 D 0.493 0.534 0.5248948 gnomAD-2.1.1 3.98E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
F/L 3283 Ig-23 45 rs780860026 0.9895 -0.302 0.999 D 0.493 0.534 0.5248948 gnomAD-4.0.0 4.78852E-06 None None None None I None 0 0 None 0 0 None 0 0 0 8.11557E-05 0
V/I 3982 Ig-28 45 rs1032555583 0.0756 None 0.001 N 0.148 0.112 None gnomAD-4.0.0 4.10507E-06 None None None None I None 0 0 None 0 0 None 0 0 5.3966E-06 0 0
E/A 4648 Ig-29 43 rs1372025302 0.1019 None None N 0.131 0.089 0.4314902 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
E/A 4648 Ig-29 43 rs1372025302 0.1019 None None N 0.131 0.089 0.4314902 gnomAD-4.0.0 4.95986E-06 None None None None N None 0 0 None 0 0 None 0 0 6.78383E-06 0 0
E/Q 4648 Ig-29 43 None 0.0923 None None N 0.211 0.067 0.34146082 gnomAD-4.0.0 1.59332E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86239E-06 0 0
N/K 5026 Ig-33 46 None 0.1736 None 0.012 N 0.241 0.078 0.07168673 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
K/E 5119 Ig-34 45 rs1183767493 0.6401 None 0.248 N 0.243 0.205 0.32223073 gnomAD-4.0.0 1.59143E-06 None None None None N None 0 0 None 0 2.77362E-05 None 0 0 0 0 0
G/E 5212 Ig-35 45 None 0.0767 None None N 0.15 0.072 0.13424169 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
G/R 5212 Ig-35 45 rs377754692 0.1023 -0.279 0.566 N 0.38 0.112 0.37902033 gnomAD-2.1.1 3.21E-05 None None None None N None 4.13E-05 1.41363E-04 None 0 0 None 3.27E-05 None 0 1.56E-05 0
G/R 5212 Ig-35 45 rs377754692 0.1023 -0.279 0.566 N 0.38 0.112 0.37902033 gnomAD-3.1.2 2.63E-05 None None None None N None 2.42E-05 1.31044E-04 0 0 0 None 0 0 1.47E-05 0 0
G/R 5212 Ig-35 45 rs377754692 0.1023 -0.279 0.566 N 0.38 0.112 0.37902033 gnomAD-4.0.0 1.85914E-05 None None None None N None 1.33561E-05 8.33556E-05 None 0 0 None 0 0 1.94952E-05 1.09798E-05 0
G/R 5494 Ig-38 45 rs727504697 0.189 -0.108 1.0 N 0.729 0.415 0.56498617 gnomAD-2.1.1 3.93E-05 None None None None N None 0 0 None 0 5.65785E-04 None 0 None 0 0 0
G/R 5494 Ig-38 45 rs727504697 0.189 -0.108 1.0 N 0.729 0.415 0.56498617 gnomAD-3.1.2 3.95E-05 None None None None N None 0 0 0 0 1.15964E-03 None 0 0 0 0 0
G/R 5494 Ig-38 45 rs727504697 0.189 -0.108 1.0 N 0.729 0.415 0.56498617 gnomAD-4.0.0 1.05361E-05 None None None None N None 0 0 None 0 3.79295E-04 None 0 0 0 0 0
R/G 5681 Ig-40 45 rs2080582630 0.5292 None 0.684 N 0.44 0.172 0.3116914 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/G 5681 Ig-40 45 rs2080582630 0.5292 None 0.684 N 0.44 0.172 0.3116914 gnomAD-4.0.0 5.12417E-06 None None None None I None 0 0 None 0 0 None 0 0 9.57245E-06 0 0
R/S 5681 Ig-40 45 None 0.8289 None 0.684 N 0.458 0.258 0.029773718 gnomAD-4.0.0 1.59125E-06 None None None None I None 0 0 None 0 2.773E-05 None 0 0 0 0 0
D/G 5774 Ig-41 45 None 0.0887 None 0.027 N 0.279 0.099 0.1263454 gnomAD-4.0.0 7.20193E-06 None None None None N None 0 0 None 0 0 None 0 0 7.87501E-06 0 0
D/N 5774 Ig-41 45 rs752660722 0.0669 0.241 0.001 N 0.149 0.077 None gnomAD-2.1.1 2.5E-05 None None None None N None 0 0 None 0 1.02617E-04 None 3.27E-05 None 0 3.12E-05 0
D/N 5774 Ig-41 45 rs752660722 0.0669 0.241 0.001 N 0.149 0.077 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 1.93125E-04 None 0 0 1.47E-05 0 0
D/N 5774 Ig-41 45 rs752660722 0.0669 0.241 0.001 N 0.149 0.077 None gnomAD-4.0.0 2.66483E-05 None None None None N None 0 0 None 0 4.45812E-05 None 0 0 3.22092E-05 3.29381E-05 0
E/G 5963 Ig-43 45 rs146983095 0.0949 -0.216 None N 0.226 0.11 None 1000 genomes 2.19649E-03 None None None None N None 0 1.4E-03 None None 0 9.9E-03 None None None 0 None
E/G 5963 Ig-43 45 rs146983095 0.0949 -0.216 None N 0.226 0.11 None gnomAD-2.1.1 6.24446E-03 None None None None N None 1.77774E-03 1.04691E-03 None 1.25871E-03 0 None 2.35356E-03 None 4.91685E-03 1.11904E-02 4.35516E-03
E/G 5963 Ig-43 45 rs146983095 0.0949 -0.216 None N 0.226 0.11 None gnomAD-3.1.2 6.04128E-03 None None None None N None 2.31683E-03 2.55637E-03 5.48246E-03 0 1.93125E-04 None 3.67439E-03 0 1.06442E-02 1.0352E-03 4.77555E-03
E/G 5963 Ig-43 45 rs146983095 0.0949 -0.216 None N 0.226 0.11 None gnomAD-4.0.0 9.71013E-03 None None None None N None 1.85294E-03 1.7669E-03 None 8.78735E-04 2.22955E-05 None 5.46772E-03 8.25627E-04 1.21964E-02 2.36051E-03 6.94711E-03
K/E 6243 Ig-46 45 rs764402049 0.1623 -0.01 0.959 N 0.275 0.176 0.2166248 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
K/E 6243 Ig-46 45 rs764402049 0.1623 -0.01 0.959 N 0.275 0.176 0.2166248 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.06954E-04 0
K/E 6243 Ig-46 45 rs764402049 0.1623 -0.01 0.959 N 0.275 0.176 0.2166248 gnomAD-4.0.0 5.12524E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.35977E-05 0
D/E 6336 Ig-47 45 rs1416824072 0.0917 0.098 0.012 N 0.195 0.05 0.09208627 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
D/E 6336 Ig-47 45 rs1416824072 0.0917 0.098 0.012 N 0.195 0.05 0.09208627 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
D/E 6336 Ig-47 45 rs1416824072 0.0917 0.098 0.012 N 0.195 0.05 0.09208627 gnomAD-4.0.0 6.57255E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
D/G 6336 Ig-47 45 rs780149886 0.0791 0.104 0.801 N 0.397 0.221 0.14142282 gnomAD-2.1.1 7.2E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.58E-05 0
D/G 6336 Ig-47 45 rs780149886 0.0791 0.104 0.801 N 0.397 0.221 0.14142282 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/G 6336 Ig-47 45 rs780149886 0.0791 0.104 0.801 N 0.397 0.221 0.14142282 gnomAD-4.0.0 5.58031E-06 None None None None N None 0 0 None 0 0 None 0 0 7.63057E-06 0 0
P/A 6618 Ig-50 45 None 0.0926 None 0.811 N 0.403 0.119 0.1783746 gnomAD-4.0.0 1.36878E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31949E-05 0
P/L 6618 Ig-50 45 None 0.1489 None 0.938 N 0.491 0.291 0.5125955 gnomAD-4.0.0 3.18465E-06 None None None None N None 5.66765E-05 0 None 0 0 None 0 0 2.86074E-06 0 0
P/S 6618 Ig-50 45 rs1234787097 0.1123 -0.242 0.811 N 0.357 0.115 0.16767937 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
P/S 6618 Ig-50 45 rs1234787097 0.1123 -0.242 0.811 N 0.357 0.115 0.16767937 gnomAD-4.0.0 6.84391E-07 None None None None N None 0 0 None 0 2.52016E-05 None 0 0 0 0 0
A/T 7088 Ig-55 45 None 0.0725 None 0.425 N 0.175 0.127 0.14956705 gnomAD-4.0.0 3.18375E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85948E-06 0 3.0259E-05
D/G 7181 Ig-56 45 None 0.1128 None 0.012 N 0.341 0.173 0.13424169 gnomAD-4.0.0 3.18433E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71932E-06 0 0
E/G 7274 Ig-57 45 None 0.0931 None 0.801 N 0.395 0.149 0.2801818 gnomAD-4.0.0 4.80129E-06 None None None None I None 0 0 None 0 0 None 0 0 3.9375E-06 0 3.66327E-05
E/G 7463 Ig-59 45 None 0.0779 None 0.101 N 0.255 0.196 0.44849882 gnomAD-4.0.0 1.59199E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85987E-06 0 0
P/L 8029 Ig-65 45 rs2077977031 0.0777 None 0.096 N 0.326 0.161 0.3967941 gnomAD-4.0.0 4.77365E-06 None None None None N None 0 0 None 0 0 None 0 0 8.5751E-06 0 0
E/K 8122 Ig-66 45 None 0.0764 None None N 0.137 0.143 0.15979856 gnomAD-4.0.0 1.59132E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
E/V 8122 Ig-66 45 rs757736721 0.1391 0.359 0.081 N 0.215 0.144 0.25679356 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.67E-05 0
E/V 8122 Ig-66 45 rs757736721 0.1391 0.359 0.081 N 0.215 0.144 0.25679356 gnomAD-4.0.0 4.77386E-06 None None None None N None 0 0 None 0 0 None 0 0 8.5751E-06 0 0
E/G 8215 Ig-67 45 None 0.0913 None 0.007 N 0.255 0.087 0.029773718 gnomAD-4.0.0 1.59133E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85842E-06 0 0
E/K 8215 Ig-67 45 rs2077831957 0.0818 None 0.007 N 0.193 0.05 0.07168673 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
E/K 8215 Ig-67 45 rs2077831957 0.0818 None 0.007 N 0.193 0.05 0.07168673 gnomAD-4.0.0 2.56239E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78636E-06 0 0
P/S 8308 Ig-68 45 rs373770383 0.1619 0.067 0.116 N 0.319 0.177 None gnomAD-2.1.1 4.64E-05 None None None None N None 5.37279E-04 0 None 0 0 None 0 None 0 0 0
P/S 8308 Ig-68 45 rs373770383 0.1619 0.067 0.116 N 0.319 0.177 None gnomAD-3.1.2 1.38053E-04 None None None None N None 4.82695E-04 0 0 0 0 None 0 0 0 0 4.78927E-04
P/S 8308 Ig-68 45 rs373770383 0.1619 0.067 0.116 N 0.319 0.177 None gnomAD-4.0.0 2.23131E-05 None None None None N None 4.53999E-04 0 None 0 0 None 0 0 0 0 3.20277E-05
A/S 8404 Ig-69 45 rs1418140235 0.0688 -0.152 None N 0.119 0.077 0.013882241 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
A/S 8404 Ig-69 45 rs1418140235 0.0688 -0.152 None N 0.119 0.077 0.013882241 gnomAD-4.0.0 1.59222E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85977E-06 0 0
K/N 8687 Ig-72 45 None 0.8401 None 0.424 N 0.439 0.068 0.10739988 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
K/Q 8687 Ig-72 45 rs753822494 0.4091 -0.05 0.082 N 0.427 0.08 None 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
K/Q 8687 Ig-72 45 rs753822494 0.4091 -0.05 0.082 N 0.427 0.08 None 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
K/Q 8687 Ig-72 45 rs753822494 0.4091 -0.05 0.082 N 0.427 0.08 None gnomAD-4.0.0 4.05977E-06 None None None None N None 5.24182E-05 0 None 0 0 None 0 0 1.20492E-06 0 0
R/K 8970 Ig-75 45 rs879143084 0.0751 None 0.086 N 0.154 0.068 0.09545038 gnomAD-4.0.0 1.59201E-06 None None None None N None 0 0 None 0 0 None 1.88324E-05 0 0 0 0
D/G 9063 Ig-76 45 rs2076862575 0.0912 None 0.003 N 0.288 0.063 0.055135567 gnomAD-4.0.0 3.1827E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71651E-06 0 0
T/A 9249 Ig-78 45 rs1426023267 0.0519 -0.061 None N 0.075 0.022 0.013882241 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
T/A 9249 Ig-78 45 rs1426023267 0.0519 -0.061 None N 0.075 0.022 0.013882241 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
T/A 9249 Ig-78 45 rs1426023267 0.0519 -0.061 None N 0.075 0.022 0.013882241 gnomAD-4.0.0 3.09848E-06 None None None None N None 0 0 None 0 0 None 0 0 4.238E-06 0 0
T/M 9249 Ig-78 45 rs745792278 0.079 0.114 0.017 N 0.215 0.017 0.17377178 gnomAD-2.1.1 2.5E-05 None None None None N None 4.13E-05 5.66E-05 None 0 1.53657E-04 None 0 None 0 7.8E-06 0
T/M 9249 Ig-78 45 rs745792278 0.079 0.114 0.017 N 0.215 0.017 0.17377178 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 1.9305E-04 None 0 0 0 0 0
T/M 9249 Ig-78 45 rs745792278 0.079 0.114 0.017 N 0.215 0.017 0.17377178 gnomAD-4.0.0 1.54931E-05 None None None None N None 5.34145E-05 3.33422E-05 None 0 2.22846E-05 None 1.56309E-05 0 1.01713E-05 3.29402E-05 3.20246E-05
P/A 9345 Ig-79 45 None 0.0634 None None None 0.148 0.045 0.048227955 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
S/C 9538 Ig-81 46 None 0.1349 None 0.295 None 0.287 0.263 0.25679356 gnomAD-4.0.0 1.59107E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 0 0 0
S/P 9538 Ig-81 46 None 0.0735 None None None 0.153 0.1 0.013882241 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/A 16007 Ig-109 40 None 0.1585 None 0.309 N 0.301 0.193 0.23689036 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/G 16007 Ig-109 40 None 0.1343 None 0.007 N 0.231 0.156 0.15410419 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
Q/K 17320 Ig-112 70 None 0.1285 None 0.003 N 0.138 0.079 0.048227955 gnomAD-4.0.0 6.84892E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16152E-05 0
A/T 18433 Ig-115 52 rs2053557019 0.181 None 0.811 N 0.533 0.216 0.22243933 gnomAD-4.0.0 1.59686E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86462E-06 0 0
D/H 19431 Ig-118 41 rs1236754057 0.1727 -0.252 0.97 N 0.323 0.299 0.23930553 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
D/V 19431 Ig-118 41 rs772172264 0.145 0.23 0.97 N 0.395 0.495 0.40501237 gnomAD-4.0.0 1.59201E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
D/Y 19431 Ig-118 41 rs1236754057 0.1828 None 0.99 N 0.452 0.344 0.37867457 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
D/Y 19431 Ig-118 41 rs1236754057 0.1828 None 0.99 N 0.452 0.344 0.37867457 gnomAD-4.0.0 4.95884E-06 None None None None N None 2.6708E-05 0 None 0 0 None 0 0 5.08635E-06 0 0
E/K 20123 Ig-120 44 rs1407608886 0.0885 0.802 0.024 N 0.251 0.176 0.1689333 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/K 20123 Ig-120 44 rs1407608886 0.0885 0.802 0.024 N 0.251 0.176 0.1689333 gnomAD-4.0.0 1.36877E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99677E-07 1.15988E-05 0
G/E 21220 Ig-123 44 rs757154541 0.9349 -1.31 1.0 N 0.835 0.52 0.66849625 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
I/F 22306 Ig-126 42 None 0.1326 None 0.171 N 0.258 0.124 0.19762549 gnomAD-4.0.0 1.59274E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86069E-06 0 0
I/N 22306 Ig-126 42 None 0.108 None 0.055 N 0.347 0.122 0.24397215 gnomAD-4.0.0 1.36895E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.31554E-05
I/T 22306 Ig-126 42 rs397517667 0.0782 -0.377 None N 0.205 0.096 None gnomAD-2.1.1 2.32447E-04 None None None None N None 0 0 None 4.74163E-03 0 None 0 None 0 9.39E-05 5.63698E-04
I/T 22306 Ig-126 42 rs397517667 0.0782 -0.377 None N 0.205 0.096 None gnomAD-3.1.2 1.11844E-04 None None None None N None 0 0 0 4.03458E-03 0 None 0 0 2.94E-05 0 4.79386E-04
I/T 22306 Ig-126 42 rs397517667 0.0782 -0.377 None N 0.205 0.096 None gnomAD-4.0.0 1.14075E-04 None None None None N None 0 0 None 4.32696E-03 0 None 0 0 2.79795E-05 0 3.68542E-04
T/A 22595 Ig-127 36 rs1438797997 0.0711 -0.028 0.003 N 0.297 0.091 0.10462268 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
T/A 22595 Ig-127 36 rs1438797997 0.0711 -0.028 0.003 N 0.297 0.091 0.10462268 gnomAD-4.0.0 4.33886E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08668E-06 0 1.60154E-05
A/D 24473 Ig-132 43 rs763682152 0.6935 -1.899 0.056 N 0.506 0.453 0.49376246 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/D 24473 Ig-132 43 rs763682152 0.6935 -1.899 0.056 N 0.506 0.453 0.49376246 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07297E-04 0
A/D 24473 Ig-132 43 rs763682152 0.6935 -1.899 0.056 N 0.506 0.453 0.49376246 gnomAD-4.0.0 2.56336E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.68061E-05 0
A/S 24473 Ig-132 43 None 0.1442 None 0.805 N 0.497 0.277 0.41402194 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
A/V 25555 Ig-135 42 rs1035031578 0.298 -0.02 1.0 N 0.575 0.345 0.35204828 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
A/V 25555 Ig-135 42 rs1035031578 0.298 -0.02 1.0 N 0.575 0.345 0.35204828 gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
A/V 25555 Ig-135 42 rs1035031578 0.298 -0.02 1.0 N 0.575 0.345 0.35204828 gnomAD-4.0.0 6.2008E-06 None None None None N None 1.20205E-04 0 None 0 0 None 0 0 0 0 1.60231E-05
V/I 26637 Ig-138 44 rs375605062 0.0935 -0.724 0.472 N 0.534 0.144 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 26637 Ig-138 44 rs375605062 0.0935 -0.724 0.472 N 0.534 0.144 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 26637 Ig-138 44 rs375605062 0.0935 -0.724 0.472 N 0.534 0.144 None gnomAD-4.0.0 1.48741E-05 None None None None N None 0 0 None 0 0 None 0 0 2.03443E-05 0 0
A/G 27321 Ig-140 44 rs1344170347 0.1192 None 0.549 N 0.307 0.168 0.18486798 gnomAD-4.0.0 1.5914E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85835E-06 0 0
A/T 27321 Ig-140 44 None 0.0857 None 0.004 N 0.223 0.062 0.15110473 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
A/D 27720 Ig-141 45 rs753972441 0.9305 -0.802 0.999 N 0.722 0.539 0.631089 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
A/D 27720 Ig-141 45 rs753972441 0.9305 -0.802 0.999 N 0.722 0.539 0.631089 gnomAD-4.0.0 6.84259E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99494E-07 0 0
A/S 27720 Ig-141 45 None 0.1561 None 0.992 N 0.485 0.328 0.41020414 gnomAD-4.0.0 1.59151E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85851E-06 0 0
A/V 27720 Ig-141 45 rs753972441 0.3054 None 0.996 N 0.547 0.302 None gnomAD-4.0.0 2.05278E-06 None None None None N None 0 2.23644E-05 None 0 0 None 0 0 8.99494E-07 0 1.65684E-05
A/T 28402 Ig-143 45 rs1060500439 0.118 None 0.142 N 0.335 0.091 0.08849929 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 28402 Ig-143 45 rs1060500439 0.118 None 0.142 N 0.335 0.091 0.08849929 gnomAD-4.0.0 2.02998E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40987E-06 0 0
A/V 28402 Ig-143 45 None 0.1529 None 0.919 N 0.47 0.332 0.25976172 gnomAD-4.0.0 1.36842E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99434E-07 1.15937E-05 0
A/P 28799 Ig-144 45 rs755083936 0.9585 -0.197 1.0 N 0.83 0.434 0.56920725 gnomAD-2.1.1 4.23E-06 None None None None N None 6.5E-05 0 None 0 0 None 0 None 0 0 0
A/T 28799 Ig-144 45 rs755083936 0.3564 None 1.0 N 0.661 0.31 0.42608497 gnomAD-4.0.0 1.38211E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.39521E-05 0
A/V 28799 Ig-144 45 None 0.3825 None 1.0 N 0.579 0.266 0.54223204 gnomAD-4.0.0 2.76449E-06 None None None None N None 0 0 None 0 0 None 0 0 3.62283E-06 0 0
A/V 29485 Ig-146 42 None 0.1628 None 0.211 N 0.224 0.157 0.2752155 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
A/D 29884 Ig-147 43 None 0.1297 None 0.029 N 0.315 0.137 0.12839243 gnomAD-4.0.0 1.36918E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79889E-06 0 0
A/G 29884 Ig-147 43 None 0.0965 None 0.024 N 0.224 0.07 0.08849929 gnomAD-4.0.0 6.84592E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99444E-07 0 0
A/T 29884 Ig-147 43 None 0.0671 None None N 0.148 0.049 0.08849929 gnomAD-4.0.0 1.59346E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
A/V 29884 Ig-147 43 rs1486750909 0.0828 None None N 0.117 0.079 0.14312445 gnomAD-4.0.0 6.84592E-07 None None None None N None 2.98721E-05 0 None 0 0 None 0 0 0 0 0
A/T 30970 Ig-150 44 rs766530422 0.1775 -0.768 0.925 N 0.455 0.171 0.31107903 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
A/T 30970 Ig-150 44 rs766530422 0.1775 -0.768 0.925 N 0.455 0.171 0.31107903 gnomAD-4.0.0 3.18245E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86541E-05 0
E/G 31660 Ig-152 40 None 0.2199 None 1.0 N 0.563 0.454 0.39239538 gnomAD-4.0.0 1.59124E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85834E-06 0 0
E/K 31660 Ig-152 40 None 0.2778 None 0.999 N 0.589 0.381 0.31619817 gnomAD-4.0.0 1.59126E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43283E-05 0
E/G 32351 Ig-154 45 rs879109633 0.1517 None 0.722 N 0.438 0.228 0.23057862 gnomAD-4.0.0 3.18245E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71661E-06 0 0
E/K 32351 Ig-154 45 rs727504879 0.2126 0.789 0.722 N 0.4 0.19 0.17948927 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
E/K 32351 Ig-154 45 rs727504879 0.2126 0.789 0.722 N 0.4 0.19 0.17948927 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
E/K 32351 Ig-154 45 rs727504879 0.2126 0.789 0.722 N 0.4 0.19 0.17948927 gnomAD-4.0.0 8.05613E-06 None None None None N None 1.33518E-05 0 None 0 0 None 0 0 9.32382E-06 0 1.60102E-05
P/A 34407 Ig-162 45 None 0.1048 None 0.003 N 0.226 0.171 0.19670166 gnomAD-4.0.0 6.84296E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99416E-07 0 0
P/S 34407 Ig-162 45 rs1438404457 0.1335 0.108 0.338 N 0.314 0.154 0.21042928 gnomAD-2.1.1 4.02E-06 None None None None I None 6.48E-05 0 None 0 0 None 0 None 0 0 0
P/S 34407 Ig-162 45 rs1438404457 0.1335 0.108 0.338 N 0.314 0.154 0.21042928 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
P/S 34407 Ig-162 45 rs1438404457 0.1335 0.108 0.338 N 0.314 0.154 0.21042928 gnomAD-4.0.0 1.85928E-06 None None None None I None 2.66987E-05 0 None 0 0 None 0 0 8.47554E-07 0 0
G/D 35464 Ig-166 45 rs528138560 0.0838 -0.442 None N 0.279 0.131 0.07168673 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
G/D 35464 Ig-166 45 rs528138560 0.0838 -0.442 None N 0.279 0.131 0.07168673 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92308E-04 None 0 0 0 0 0
G/D 35464 Ig-166 45 rs528138560 0.0838 -0.442 None N 0.279 0.131 0.07168673 gnomAD-4.0.0 2.59754E-06 None None None None N None 0 0 None 0 4.85838E-05 None 0 0 0 0 0
G/R 35464 Ig-166 45 None 0.1331 None 0.278 N 0.472 0.082 0.31795865 gnomAD-4.0.0 6.89775E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.20831E-05 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.