Mutations of patients with factor X deficiency

Mutation	Location	Domain	Type	Genotype	Origin	Activity (PT based assay) U /dL	Antigen U/dL	Studies of Dysfunctional protein	Reference
Met-40Val (Nice I) Pro304Ser (Nice II)	Exon 1 Exon 8	Prepro Catalytic	Initiation Met Missense	Comp het		4	7		1
nt 8 del GC Phe31Ser	Exon 1 Exon 2	Prepro Gla	Frame shift	Comp het	China	<1	5		2
Gly-20Arg* (Santo Domingo)	Exon 1	Prepro	Missense	Hom	Santo Domingo	<2	<5	Expressed	3,4,5
IVS1+3 A>T	Intron 1		Splicing	Hom	Iran	<1	7		6
IVS1-1 G>C	Intron 1		Splicing	Hom	Asia	<1	<1		5
Thr-2Met Cys111Tyr	Exon 2 Exon 5	Prepro EGF 2	Missense Missense	Comp het	France	12	26		5
Arg-1Thr*	Exon 2	Prepro	Missense	Hom		<1-7	43-66		6
Glu7Gly (St Louis II)	Exon 2	Gla	Missense	Hom		1-3	100	Expressed	7
Glu14Lys (Vorarlberg)	Exon 2	Gla	Missense	Hom		5-10	20	Purified	8
Glu14Gly (Ketchikan)	Exon 2	Gla	Missense	Hom		5	20		9
Glu19Ala	Exon 2	Gla	Missense	Hom	Italy	<1	17	Expressed	10
Glu25Lys (Frankfurt I)	Exon 2	Gla	Missense	Het		56	55	Expressed	11
Glu32Gln (Tokyo)	Exon 2	Gla	Missense	Hom	Japan	3	61		12
IVS2-3 T>G	Intron 2		Splicing	Hom	Iran	2	3		6
Asn57Thr (Wenatchee II) Arg139Cys (Wenatchee I)	Exon 4 Exon 6	EGF 1 EGF 2	Missense Missense	Comp het		10-20	30-35		13
Gly78Asp	Exon 4	EGF 1	Missense	Hom	Iran	<1	8		6
Cys81Tyr*	Exon 4	EGF 1	Missense	Hom	Iran	<1			6
IVS4-8del CTT	Intron 4		Splicing	Hom	Japan	2.5	<5		14
Gly94Arg Asp95Glu	Exon 5 Exon 5	EGF 2 EGF 2	Missense Missense	Comp het	Iran-Turkey	<1-2	3-4		6
Cys109Tyr	Exon 5	EGF 2	Missense	Hom		<1	?		5
Gly114Arg (Kanazawa)	Exon 5	EGF 2	Missense	Het	Japan	45	50	</