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 - databases for immunodeficiency-causing variations

   HAX1base
   Variation registry for  Severe congenital neutropenia (Kostmann disease)


Codon changes - HAX1base

  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                                                                 0
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                                                   9             9
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                                                         8       8
cgc                                                                 0
cgg                                                                 0
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                                                                 0
ctt                            2                                    2
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             1                                                   1
gtc                                          3                      3
gtg                                                                 0
gtt                                                                 0
taa                                                                 0
tac                                                                 0
tag                                                                 0
tat                                                                 0
tca                                                                 0
tcc                                                                 0
tcg                                                                 0
tct                                                                 0
tga                                                                 0
tgc                                                                 0
tgg                                                   38             38
tgt                                                                 0
tta                                                                 0
ttc                                                                 0
ttg                                                                 0
ttt                                4                                4
Total 0000000000001000000000000002000400000000030000000047000008000000065

-->(%) 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                                                                 0
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                                                   14             14
cat                                                                 0
cca                                                                 0
ccc                                                                 0
ccg                                                                 0
cct                                                                 0
cga                                                         12       12
cgc                                                                 0
cgg                                                                 0
cgt                                                                 0
cta                                                                 0
ctc                                                                 0
ctg                                                                 0
ctt                            3                                    3
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             2                                                   2
gtc                                          5                      5
gtg                                                                 0
gtt                                                                 0
taa                                                                 0
tac                                                                 0
tag                                                                 0
tat                                                                 0
tca                                                                 0
tcc                                                                 0
tcg                                                                 0
tct                                                                 0
tga                                                                 0
tgc                                                                 0
tgg                                                   58             58
tgt                                                                 0
tta                                                                 0
ttc                                                                 0
ttg                                                                 0
ttt                                6                                6
Total 000000000000200000000000000300060000000005000000007200000120000000100
    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