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- databases for immunodeficiency-causing variations

   IL12RB1base
   Variation registry for  Interleukin-12 receptor β1 deficiency


Codon changes - IL12RB1base

  a
a
a
a
a
c
a
a
g
a
a
t
a
c
a
a
c
c
a
c
g
a
c
t
a
g
a
a
g
c
a
g
g
a
g
t
a
t
a
a
t
c
a
t
g
a
t
t
c
a
a
c
a
c
c
a
g
c
a
t
c
c
a
c
c
c
c
c
g
c
c
t
c
g
a
c
g
c
c
g
g
c
g
t
c
t
a
c
t
c
c
t
g
c
t
t
g
a
a
g
a
c
g
a
g
g
a
t
g
c
a
g
c
c
g
c
g
g
c
t
g
g
a
g
g
c
g
g
g
g
g
t
g
t
a
g
t
c
g
t
g
g
t
t
t
a
a
t
a
c
t
a
g
t
a
t
t
c
a
t
c
c
t
c
g
t
c
t
t
g
a
t
g
c
t
g
g
t
g
t
t
t
a
t
t
c
t
t
g
t
t
t
Total
aaa                                                                 0
aac                                                                 0
aag                                                   2             2
aat                                                                 0
aca                                                                 0
acc                                                                 0
acg                                                                 0
act                                                                 0
aga                                                                 0
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc                                                                 0
atg                                                                 0
att                                                                 0
caa                                                                 0
cac                                                                 0
cag                       1                           14             15
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                     2                                   2       4
cgc                                                                 0
cgg                       6                                   6     12
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                       2                                         2
ctt                                                                 0
gaa                                                                 0
gac                                                                 0
gag                                                                 0
gat                                                                 0
gca                                                                 0
gcc                                                                 0
gcg                                                                 0
gct                                                                 0
gga                                                                 0
ggc                                                                 0
ggg                                                                 0
ggt                                                                 0
gta                                                                 0
gtc                                                                 0
gtg                                                                 0
gtt                                                                 0
taa                                                                 0
tac                                                                 0
tag                                                                 0
tat                                                            2    2
tca                                                                 0
tcc                                                                 0
tcg                                                   2             2
tct                                                                 0
tga                                                                 0
tgc                          2                                      2
tgg                                                                 0
tgt                                                                 0
tta                                                                 0
ttc                                                                 0
ttg                                                                 0
ttt                                                                 0
Total 0000000000000000000020900200000000000000000000000018000002062000041

-->(%) a
a
a
a
a
c
a
a
g
a
a
t
a
c
a
a
c
c
a
c
g
a
c
t
a
g
a
a
g
c
a
g
g
a
g
t
a
t
a
a
t
c
a
t
g
a
t
t
c
a
a
c
a
c
c
a
g
c
a
t
c
c
a
c
c
c
c
c
g
c
c
t
c
g
a
c
g
c
c
g
g
c
g
t
c
t
a
c
t
c
c
t
g
c
t
t
g
a
a
g
a
c
g
a
g
g
a
t
g
c
a
g
c
c
g
c
g
g
c
t
g
g
a
g
g
c
g
g
g
g
g
t
g
t
a
g
t
c
g
t
g
g
t
t
t
a
a
t
a
c
t
a
g
t
a
t
t
c
a
t
c
c
t
c
g
t
c
t
t
g
a
t
g
c
t
g
g
t
g
t
t
t
a
t
t
c
t
t
g
t
t
t
Total
aaa                                                                 0
aac                                                                 0
aag                                                   5             5
aat                                                                 0
aca                                                                 0
acc                                                                 0
acg                                                                 0
act                                                                 0
aga                                                                 0
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc                                                                 0
atg                                                                 0
att                                                                 0
caa                                                                 0
cac                                                                 0
cag                       2                           34             37
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                     5                                   5       10
cgc                                                                 0
cgg                       15                                   15     29
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                       5                                         5
ctt                                                                 0
gaa                                                                 0
gac                                                                 0
gag                                                                 0
gat                                                                 0
gca                                                                 0
gcc                                                                 0
gcg                                                                 0
gct                                                                 0
gga                                                                 0
ggc                                                                 0
ggg                                                                 0
ggt                                                                 0
gta                                                                 0
gtc                                                                 0
gtg                                                                 0
gtt                                                                 0
taa                                                                 0
tac                                                                 0
tag                                                                 0
tat                                                            5    5
tca                                                                 0
tcc                                                                 0
tcg                                                   5             5
tct                                                                 0
tga                                                                 0
tgc                          5                                      5
tgg                                                                 0
tgt                                                                 0
tta                                                                 0
ttc                                                                 0
ttg                                                                 0
ttt                                                                 0
Total 0000000000000000000050220050000000000000000000000004400000501550000100
    indicates codon change that require more complex mutation than single nucleotide substitution.
    indicates codon change that single nucleotide doesn't change amino acid (silent mutation).




This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025