Mutations of patients with factor XI deficiency
Mutation	Location	Domain	Type	Genotype	Origin	Activity U/dL	Antigen U/dL	Expression	Comments	Reference
Asp16His	Exon 3	Apple 1	Missense	Het				Yes		1
Cys38Arg*	Exon 3	Apple 1	Missense	Hom	French Basque	<1		Yes	Founder mutation	2
Cys38Arg* Tye493His	Exon 3 Exon 13	Apple 1 Catalytic	Missense Missense	Comp het	French Basque	1-2		Yes Yes		2
nt 192 ins G Gln88stop*	Exon 3 Exon 4	Apple 1 Apple 1	Frame shift Nonsense	Comp het	West France	<1	<1			3
nt 308 ins 7bp	Exon 4	Apple 1	Frame shift	Het	Portugal	40	48			4
Gln88stop*	Exon 4	Apple 1	Nonsense	Hom	West France	<1	<1			3
Gln88stop* Thr575Met	Exon 4 Exon 15	Apple 1 Catalytic	Nonsense Missense	Comp het	West France	1	42			3
Gly104Asp	Exon 5	Apple 2	Missense	Het		33				5
Glu117stop (type II)*	Exon 5	Apple 2	Nonsense	Hom	Ashkenazi and non Ashkenazi Jews	<1	1	Yes	Common in Ashkenazi and Iraqi Jews, founder mutation	6,7,8,9, 10,11
Glu117stop	Exon 5	Apple 2	Nonsense	Hom	Portugal	1			2 unrelated families with Jewish haplotype	4
Glu117stop* (typeII) Phe283Leu* (type III)	Exon 5 Exon 9	Apple 2	Nonsense Missense	Comp het	Ashkenazi Jewish	2-8			Common in Ashkenazi Jews	6,7,8
Cys128stop*	Exon 5	Apple 2	Nonsense	Het	UK	49	41			12,13
Cys128stop*	Exon 5	Apple 2	Nonsense	Hom	UK	<1				13,14
Cys128stop* Undefined	Exon 5	Apple 2	Nonsense	Comp het	UK	<1	<1			13
Cys128stop* nt? ins 1 bp	Exon 5 Exon 4	Apple 2 Apple 1	Nonsense Frame shift	Comp het		<2				13
IVS5+5 G>C	Intron 5		Splicing							1
IVS5-2 A>G	Intron 5		Splicing	Hom		3				5
Gly155Glu	Exon 6	Apple 2	Missense	Het		41				5
IVS6+3 A>G	Intron 6		Splicing	Het	Basque	40				2
Arg210stop Gly336Arg	Exon 7 Exon 10	Apple 3 Apple 4	Nonsense Missense	Comp het	Lebanon	<1	<3			3
Gln226Arg Ser248Asn	Exon 7 Exon 8	Apple 3 Apple 3	Polymorphism Missense	Het	African American	42-55	70	Yes		15,16,17
Trp228stop Trp383stop	Exon 7 Exon 11	Apple 3 Catalytic	Nonsense Nonsense	Comp het	China					18