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 - databases for immunodeficiency-causing variations

   BTKbase
   Variation registry for  X-linked agammaglobulinemia (XLA)


Aminoacid substitutions - BTKbase

Grey areas indicate amino acid changes requiring a more complex change than a single nucleotide substitution.
Dark grey areas indicate cases not representing an amino acid substitution but silent variations (V>V and R>R) and a point mutation creating a cryptic splice site (G>G).

A: absolute numbers
  Hydrophilic  
  Hydrophobic Acidic Basic Polar Special  
-> A F I L M V W Y D E H K R N Q S T C G P X total
A 0 0 0 0 0 7 0 0 4 3 0 0 0 0 0 0 0 0 0 6 0 20
F 0 0 0 3 0 1 0 2 0 0 0 0 0 0 0 7 0 1 0 0 1 15
I 0 1 0 0 1 0 0 0 0 0 0 0 0 7 0 1 4 0 0 0 0 14
L 0 9 2 0 0 2 1 0 0 0 0 0 4 0 1 4 0 0 0 27 4 54
M 0 0 8 1 0 3 0 0 0 0 0 3 1 0 0 0 14 0 0 0 0 30
V 3 5 0 0 0 1 0 0 3 1 0 0 0 0 0 0 0 0 2 0 1 16
W 0 0 0 1 0 0 0 0 0 0 0 0 6 0 0 2 0 2 0 0 29 40
Y 0 0 0 0 0 0 0 0 5 0 4 0 0 4 0 6 0 9 0 0 34 62
D 0 0 0 0 0 3 0 1 0 1 1 0 0 2 0 0 0 0 2 0 0 10
E 0 0 0 0 0 0 0 0 5 0 0 2 0 0 0 0 0 0 3 0 13 23
H 0 0 0 0 0 0 0 1 1 0 0 0 3 0 1 0 0 0 0 2 0 8
K 0 0 1 0 0 0 0 0 0 8 0 0 3 2 0 0 0 0 0 0 10 24
R 0 0 0 2 0 0 45 0 0 0 29 4 1 0 32 7 2 18 14 8 59 221
N 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 1 3
Q 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 0 1 44 48
S 0 5 1 1 0 0 0 3 0 0 0 0 1 0 0 0 0 0 0 5 7 23
T 1 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 0 12
C 0 5 0 0 0 0 2 12 0 0 0 0 3 0 0 2 0 0 3 0 5 32
G 1 0 0 0 0 1 1 0 8 15 0 0 11 0 0 0 0 0 1 0 2 40
P 2 0 0 4 0 0 0 0 0 0 0 0 2 0 0 5 5 0 0 0 0 18
total 7 25 15 12 1 18 49 20 26 28 36 10 36 15 34 34 25 30 25 57 210 713
B: percentages
  Hydrophilic  
  Hydrophobic Acidic Basic Polar Special  
-> A F I L M V W Y D E H K R N Q S T C G P X total
A 0         1     0.6 0.4           0 0   0 0.8 0 2.8
F   0 0 0.4   0.1   0.3               1   0.1     0.1 2.1
I   0.1 0 0 0.1 0           0 0 1 0 0.1 0.6       0 2
L   1.3 0.3 0 0 0.3 0.1       0   0.6   0.1 0.6       3.8 0.6 7.6
M     1.1 0.1 0 0.4           0.4 0.1       2       0 4.2
V 0.4 0.7 0 0 0 0.1     0.4 0.1                 0.3 0 0.1 2.2
W       0.1     0           0.8     0.3   0.3 0   4.1 5.6
Y   0           0 0.7   0.6     0.6   0.8   1.3     4.8 8.7
D 0         0.4   0.1 0 0.1 0.1     0.3         0.3   0 1.4
E 0         0     0.7 0   0.3     0       0.4   1.8 3.2
H       0       0.1 0.1   0   0.4 0 0.1         0.3 0 1.1
K     0.1   0         1.1   0 0.4 0.3 0   0       1.4 3.4
R     0 0.3 0   6.3       4.1 0.6 0.1   4.5 1 0.3 2.5 2 1.1 8.3 31
N     0         0.1 0   0 0.1   0   0 0       0.1 0.4
Q     0 0           0 0.3 0 0.1   0         0.1 6.2 6.7
S 0 0.7 0.1 0.1     0 0.4         0.1 0   0 0 0 0 0.7 1 3.2
T 0.1   0.4   0             0 0 0   0 0     1.1 0 1.7
C   0.7         0.3 1.7         0.4     0.3   0 0.4   0.7 4.5
G 0.1         0.1 0.1   1.1 2.1     1.5     0   0 0.1   0.3 5.6
P 0.3     0.6   0         0   0.3   0 0.7 0.7     0 0 2.5
total 1 3.5 2.1 1.7 0.1 2.5 6.9 2.8 3.6 3.9 5 1.4 5 2.1 4.8 4.8 3.5 4.2 3.5 8 29.5 100