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- databases for immunodeficiency-causing variations

   SMARCAL1base
   Variation registry for  Schimke immuno-osseous dysplasia


Codon changes - SMARCAL1base

  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                                             4
aat                                                                 0
aca             1                                                   1
acc                                                                 0
acg                                                                 0
act                                                                 0
aga                                                                 0
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc          1                                                      1
atg             1                                                   1
att    1       1                                                    2
caa                                                                 0
cac                      1                                          1
cag                                                   3             3
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                               1                                 1
cct                                                                 0
cga                                                         2       2
cgc                  9                                       5      14
cgg                   2                                       4     6
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                                                                 0
ctt                                                                 0
gaa                 1                                               1
gac                                                                 0
gag                                                   15             15
gat                                                                 0
gca                                                                 0
gcc                      3                                          3
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                                                                 0
tca                                                         1       1
tcc                                                                 0
tcg                                                   1           2 3
tct                                                                 0
tga                                                                 0
tgc                                                                 0
tgg                                                                 0
tgt                                                                 0
tta                                                                 0
ttc                                              1       4          5
ttg                                                                 0
ttt                                                                 0
Total 0001002001012000194004000000001000000000000001000019004003540002064

-->(%) 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       3           3                                             6
aat                                                                 0
aca             2                                                   2
acc                                                                 0
acg                                                                 0
act                                                                 0
aga                                                                 0
agc                                                                 0
agg                                                                 0
agt                                                                 0
ata                                                                 0
atc          2                                                      2
atg             2                                                   2
att    2       2                                                    3
caa                                                                 0
cac                      2                                          2
cag                                                   5             5
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                               2                                 2
cct                                                                 0
cga                                                         3       3
cgc                  14                                       8      22
cgg                   3                                       6     9
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                                                                 0
ctt                                                                 0
gaa                 2                                               2
gac                                                                 0
gag                                                   23             23
gat                                                                 0
gca                                                                 0
gcc                      5                                          5
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                                                                 0
tca                                                         2       2
tcc                                                                 0
tcg                                                   2           3 5
tct                                                                 0
tga                                                                 0
tgc                                                                 0
tgg                                                                 0
tgt                                                                 0
tta                                                                 0
ttc                                              2       6          8
ttg                                                                 0
ttt                                                                 0
Total 000200300202300021460060000000020000000000000020000300060058600030100
    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