Table 2. F8 mutations in hemophilia A... | American Society of Hematology

Table 2.

F8 mutations in hemophilia A carriers

Mutation, exon	Domain	Type	Mutation severity	N	FVIII levels
p.(Pro151Ser), 4	A1	Missense	Mild	2	0.57, 0.84
p.(Tyr365Cys), 8	A1	Missense	Mild	1	1.21
Intron 22		Inversion	Severe	5	0.31, 0.83, 0.35, 0.58, 0.57
p.(Arg1800His), 16	A3	Missense	Mild/moderate/severe	1	1.03
p.(Leu1193Glnfs*27), 14	B	Dup. fs.	Severe	2	0.55, 0.42
p.(Arg2159Cys), 23	C1	Missense	Mild	1	0.54
p.(Asn1941Ser), 18	A3	Missense	Severe	1	0.42
p.(Gly720Arg), 14		Missense		1	0.35
p.(Arg2169Cys), 23	C1	Missense	Mild	1	0.35
p.(Arg602*), 12	A2	Nonsense	Severe	1	1.25
p.(Ser554Gly), 11	A2	Missense	Mild	1	0.39

Mutation, exon	Domain	Type	Mutation severity	N	FVIII levels
p.(Pro151Ser), 4	A1	Missense	Mild	2	0.57, 0.84
p.(Tyr365Cys), 8	A1	Missense	Mild	1	1.21
Intron 22		Inversion	Severe	5	0.31, 0.83, 0.35, 0.58, 0.57
p.(Arg1800His), 16	A3	Missense	Mild/moderate/severe	1	1.03
p.(Leu1193Glnfs*27), 14	B	Dup. fs.	Severe	2	0.55, 0.42
p.(Arg2159Cys), 23	C1	Missense	Mild	1	0.54
p.(Asn1941Ser), 18	A3	Missense	Severe	1	0.42
p.(Gly720Arg), 14		Missense		1	0.35
p.(Arg2169Cys), 23	C1	Missense	Mild	1	0.35
p.(Arg602*), 12	A2	Nonsense	Severe	1	1.25
p.(Ser554Gly), 11	A2	Missense	Mild	1	0.39

Dup. fs., duplication frameshift.