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- databases for immunodeficiency-causing variations

   BLMbase
   Variation registry for  Bloom syndrome


Codon changes - BLMbase

  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                                                         1       3
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc      2                                                          2
atg                                                                 0
att                                                                 0
caa                                                 28               28
cac                                                                 0
cag                           2                       18             20
cat                                                    2            2
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                                                         14       14
cgc                                                                 0
cgg                                                                 0
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                                                                 0
ctt                                                                 0
gaa                                                                 0
gac                                                                 0
gag                                                                 0
gat                                                1                1
gca                                                                 0
gcc                                                                 0
gcg                                                                 0
gct                                                                 0
gga                                                                 0
ggc                                                                 0
ggg                                   1           2                 3
ggt                                                                 0
gta                                                                 0
gtc                                                                 0
gtg                                                                 0
gtt                                                                 0
taa                                                                 0
tac                                                                 0
tag                                                                 0
tat                                                 1               1
tca                                                 3       2       5
tcc                                                                 0
tcg                                                                 0
tct                                                                 0
tga                                                                 0
tgc                          2                       1           2  5
tgg                                                         5       5
tgt                                                    2   7        9
tta                                                 2               2
ttc                                                                 0
ttg                                                                 0
ttt                                                                 2
Total 0000020000000000000000000220000000100000000000213612240007220000200104

-->(%) 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                                                         1       3
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc      2                                                          2
atg                                                                 0
att                                                                 0
caa                                                 27               27
cac                                                                 0
cag                           2                       17             19
cat                                                    2            2
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                                                         13       13
cgc                                                                 0
cgg                                                                 0
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                                                                 0
ctt                                                                 0
gaa                                                                 0
gac                                                                 0
gag                                                                 0
gat                                                1                1
gca                                                                 0
gcc                                                                 0
gcg                                                                 0
gct                                                                 0
gga                                                                 0
ggc                                                                 0
ggg                                   1           2                 3
ggt                                                                 0
gta                                                                 0
gtc                                                                 0
gtg                                                                 0
gtt                                                                 0
taa                                                                 0
tac                                                                 0
tag                                                                 0
tat                                                 1               1
tca                                                 3       2       5
tcc                                                                 0
tcg                                                                 0
tct                                                                 0
tga                                                                 0
tgc                          2                       1           2  5
tgg                                                         5       5
tgt                                                    2   7        9
tta                                                 2               2
ttc                                                                 0
ttg                                                                 0
ttt                                                                 2
Total 0000020000000000000000000220000000100000000000213512140007210000200100
    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 17.04.2024