BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead

Table 3

Distribution and percentages of amino acid substitutions.

Original	Variant																				Total	% age
	A	C	D	E	F	G	H	I	K	L	M	N	P	Q	R	S	T	V	W	Y
A			11	2									6				2	8			29	3.08
C					7	7									8	2			2	24	50	5.31
D				4		2	2					3						9		1	21	2.23
E			6			5			4					2							17	1.81
F		1								7						8		4		2	22	2.34
G	1	1	15	24											27	1		4	3		76	8.08
H			3							4		1	6	2	5					3	24	2.55
I					2						1	12			1	4	9				29	3.08
K				17				1				8			4						30	3.19
L					16			3					51	4	10	5		2	2		93	9.88
M								5	4	2					3		13	6			33	3.51
N									3											1	4	0.43
P	4									7					2	8	6				27	2.87
Q							3						2								5	0.53
R		41				25	60		5	9	2		14	65		11	2		88		322	34.22
S					6			2		3			20		3		1			6	41	4.36
T	3							4					12								19	2.02
V	4		7	1	10	2		1													25	2.66
W		11				3				2					6	2					24	2.55
Y		18	6				12					6				8					50	5.31
Total	12	72	48	48	41	44	77	16	16	34	3	30	111	73	69	49	33	33	95	37	941
% age	1.28	7.65	5.10	5.10	4.36	4.68	8.18	1.70	1.70	3.61	0.32	3.19	11.80	7.76	7.33	5.21	3.51	3.51	10.10	3.93