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- databases for immunodeficiency-causing variations

   SBDSbase
   Variation registry for  Shwachman-Diamond syndrome


Codon changes - SBDSbase

  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  1                              1                               2
aac          1   3                                                  4
aag           1                                                     1
aat        1                                                        1
aca                                                                 0
acc                                                                 0
acg                                                                 0
act                                                                 0
aga                                                                 0
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc                                                                 0
atg                                                                 0
att        1                                                        1
caa                                                                 0
cac                                                                 0
cag                           1                                     1
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                                                         2       2
cgc                                                                 0
cgg                   1                                       1     2
cgt                                1                           1    2
cta                                                                 0
ctc                      2                                          2
ctg                                                                 0
ctt                                                                 0
gaa                                         2                       2
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                                                          1      1
tag                                                                 0
tat                                                                 0
tca                                                                 0
tcc                                                                 0
tcg                                                           1   1 2
tct                                                                 0
tga                                                                 0
tgc                                                           1     1
tgg                                                                 0
tgt                            1                                    1
tta                                                                 0
ttc                              1                                  1
ttg                                                                 0
ttt                                                                 0
Total 010000020110030000100200001101011000000020000000000000002131001026

-->(%) 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  4                              4                               8
aac          4   12                                                  15
aag           4                                                     4
aat        4                                                        4
aca                                                                 0
acc                                                                 0
acg                                                                 0
act                                                                 0
aga                                                                 0
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc                                                                 0
atg                                                                 0
att        4                                                        4
caa                                                                 0
cac                                                                 0
cag                           4                                     4
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                                                         8       8
cgc                                                                 0
cgg                   4                                       4     8
cgt                                4                           4    8
cta                                                                 0
ctc                      8                                          8
ctg                                                                 0
ctt                                                                 0
gaa                                         8                       8
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                                                          4      4
tag                                                                 0
tat                                                                 0
tca                                                                 0
tcc                                                                 0
tcg                                                           4   4 8
tct                                                                 0
tga                                                                 0
tgc                                                           4     4
tgg                                                                 0
tgt                            4                                    4
tta                                                                 0
ttc                              4                                  4
ttg                                                                 0
ttt                                                                 0
Total 040000080440012000040080000440404400000008000000000000000841240040100
    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