2007 Mutations in patients with factor X deficiency

Mutations in 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	Frameshift	Comp het	China	<1	5		2
Leu-32Pro	Exon 1	Prepro	Missense	Hom	Germany	23	15		3
Ser-30Arg ( Shanghai)	Exon 1	Prepro	Missense	Hom	China	2.6	8.2	Expressed	4
Gly-20Arg* ( Santo Domingo)	Exon 1	Prepro	Missense	Hom	Santo Domingo	<2	<5	Expressed	3, 5, 6, 7
Gly-20Arg* ( Santo Domingo) Gly204Arg*	Exon 1 Exon 7	Prepro Catalytic	Missense Missense	Comp het	Venezuela	<1 #			3
IVS1+1 G>A Arg347His	Intron 1 Exon 8	Catalytic	Splicing Missense	Comp het	China	2.5	59	Expressed	8
IVS1+3 A>T	Intron 1		Splicing	Hom	Iran	<1	7		9
IVS1-1 G>C	Intron 1		Splicing	Hom	Asia	0	<1		7
Thr-2Met Cys111Tyr	Exon 2 Exon 5	Prepro EGF 2	Missense Missense	Comp het	France	12	26		7
Arg-1Thr*	Exon 2	Prepro	Missense	Hom		<1-7	43-66		9
Ser3Cys	Exon 2	Gla	Missense	Hom		10	42		10
Glu7Gly* (St Louis II)	Exon 2	Gla	Missense	Hom		1-3	100	Expressed	11
Gly7Lys	Exon 2	Gla	Missense	Het	Germany	47 #			3
Glu14Lys* (Vorarlberg)	Exon 2	Gla	Missense	Hom		5-10	20	Purified	3, 12
Glu14Gly* ( Ketchikan)	Exon 2	Gla	Missense	Hom		5	20		13
Glu14Gly* ( Ketchikan) Ser379Lys	Exon 2 Exon 8	Gla Catalytic	Missense Missense	Comp het	Poland	2 #			3
Glu19Ala	Exon 2	Gla	Missense	Hom	Italy	<1	17	Expressed	14
Glu25Lys ( Frankfurt I)	Exon 2	Gla	Missense	Het		56	55	Expressed	15
Phe31Ser nt 514 det T and nt 516 T>C	Exon 2 Exon 6	Gla EGF 2	Missense Frameshift	Comp het	Nepal	<1			16
Glu32Gln ( Tokyo)	Exon 2	Gla	Missense	Hom	Japan	3	61		17
IVS2-3 T>G	Intron 2		Splicing	Hom	Iran	2	3		9
Asn57Thr ( Wenatchee II) Arg139Cys ( Wenatchee I)	Exon 4 Exon 6	EGF 1 EGF 2	Missense Missense	Comp het		10-20	30-35		18
Gly78Asp	Exon 4	EGF 1	Missense	Hom	Iran	<1	8		9
Cys81Tyr*	Exon 4	EGF 1	Missense	Hom	Iran	<1			9
IVS4-8del CTT	Intron 4		Splicing	Hom	Japan	2.5	<5		19
Gly94Arg*	Exon 5	EGF 2	Missense	Hom	Poland	<2	<2		3
Gly94Arg* Asp95Glu	Exon 5 Exon 5	EGF 2 EGF 2	Missense Missense	Comp het	Iran-Turkey	<1-2	3-4		9
Gly94Arg* Arg142Met	Exon 5 Exon 6	EGF 2 Catalytic	Missense Missense	Comp het	Germany	<3 #			3
Gly94Arg* Tyr344Cys	Exon 5 Exon 8	EGF 2 Catalytic	Missense Missense	Comp het	Poland	<3 #			3
Glu102Lys	Exon 5	EGF2	Missense	Hom	Germany	36			3
Cys109Tyr	Exon 5	EGF 2	Missense	Hom		<1			7
Gly114Arg* (Kanazawa)	Exon 5	EGF 2	Missense	Hom	Venezuela	19	25		3
Gly114Arg* (Kanazawa)	Exon 5	EGF 2	Missense	Het	Japan	45	50		20
Gly133Arg	Exon 6	EGF 2	Missense	Hom	India	<1			16
Arg139Ser (Kurayoshi)	Exon 6	EGF 2	Missense	Hom	Japan	27	72		21
nt556 del C and Lys408Asn*	Exon 6 and exon 8	Catalytic Catalytic	Frameshift Missense	Double het	Italy	9	72		22
Gly152Arg and Ala234Ser*	Exon 6 and exon 7	Catalytic	Missense	Double hom	Venezuela	6	120		3
nt 608 del AT	Exon 6	Catalytic	Frameshift	Hom		<1			3, 23
Gly204Arg	Exon 6	Catalytic	Missense	Hom	Iran	6	7		9
Gly222Asp*	Exon 7	Catalytic	Missense	Hom	Iran	<1	10		3, 9
Gly223Arg	Exon 7	Catalytic	Missense	Hom	India	<			16
nt814 del C Arg326Cys ( San Antonio)	Exon 7	Catalytic	Frameshift Missense	Comp het		14	36		24
Ala234Ser*	Exon 7	Catalytic	Missense	Het	Germany	52 #			3
nt 865 G>C	Exon 7	Catalytic	Splicing	Het	Spain	60	53		7
IVS7-1 G>A	Introns 7		Splicing	Hom	Germany	<1			3
Arg251Trp	Exon 8	Catalytic	Missense	Hom		26	100		25, 26
nt 882 ins C Gly366Ser*	Exon 8 Exon 8	Catalytic Catalytic	Frameshift Missense	Comp het	China	<1	45		27
Glu264Lys	Exon 8	Catalytic	Missense	Het	France	68	74		7
nt 929 del TCA	Exon 8	Catalytic	Frameshift	Het	Slovakia				3
Phe281Leu	Exon 8	Catalytic	Missense	Hom	Poland	<1	<2		3
Asp282Asn* Arg287Trp	Exon 8 Exon 8	Catalytic	Missense Missense	Comp het	U.K	6			7
Asp282Asn* (Stockton)	Exon 8	Catalytic	Missense	Het		43	101	Plasma studied	28
Val298Met* (Stuart)	Exon 8	Catalytic	Missense	Hom		<1	<1		29
Val298Met* (Stuart)	Exon 8	Catalytic	Missense	Het	Germany	45 #			3
Val298Met* nt1151 del17bp	Exon 8 Exon 8		Missense Frameshift	Comp het	UK	< 1	2		7
Arg306Cys (Nagoya I) Undefined	Exon 8	Catalytic	Missense	Comp het		3	<10		30
Glu310Lys Undefined	Exon 8	Catalytic	Missense	Comp het	Germany	8	10		7
Thr318Met* (Roma)	Exon 8	Catalytic	Missense	Hom	Italy	<1	100	Plasma studied	7, 31
Thr318Met*	Exon 8	Catalytic	Missense	Hom		3	80		32
Thr318Met*	Exon 8	Catalytic	Missense	Hom	India	24			16
Thr318Met* Gly323Ser*	Exon 8 Exon 8	Catalytic Catalytic	Missense Missense	Comp het	UK	<1	64		7
Gly323Ser*	Exon 8	Catalytic	Missense	Hom	India	<1			16
Glu329Gly	Exon 8	Catalytic	Missense	Het	Slovakia	32 #			3
Ser334Pro* (Marseille)	Exon 8	Catalytic	Missense	Hom	France	21-26	100	Purified	33, 34, 35
Ser334Pro* Gly380Arg* ( Padua 3)	Exon 8 Exon 8	Catalytic Catalytic	Missense Missense	Comp het	Italy	8	40		36
Val342Ala	Exon 8	Catalytic	Missense	Het		73		Expressed	37
Pro343Ser* ( Friuli)	Exon 8	Catalytic	Missense	Hom	Italy	4-9	100		38, 39, 40
Arg347Cys Undefined	Exon 8	Catalytic	Missense	Com het	Germany	<1 #			3
Cys350Phe* (Padua 4)	Exon 8	Catalytic	Missense	Hom	Italy	5	5		25, 41
Cys350Phe* (Padua 4)	Exon 8	Catalytic	Missense	Hom	Germany	<1			3
Ser353Arg	Exon 8	Catalytic	Missense	Het	Germany	47 #			3
Ser354Arg	Exon 8	Catalytic	Missense	Hom	India	<1			16
Phe356Cys Glu7Gly*	Exon 8 Exon 2	Catalytic Gla	Missense Missense	Comp het		3	25		42
Phe363Ile	Exon 8	Catalytic	Missense	Het	Germany	44 #			3
Cys364Arg*	Exon 8	Catalytic	Missense	Hom	Iran	<1			43
Cys364Arg*	Exon 8	Catalytic	Missense	Het		48	31		7
Gly366Ser* (Nagoya II)	Exon 8	Catalytic	Missense	Het		34	80		7, 30
Gly366Ser*	Exon 8	Catalytic	Missense	Hom	Sri Lanka	1	67	Expressed	44
Gly366Ser*	Exon 8	Catalytic	Missense	Hom	India	<1			16
Gly380Arg*	Exon 8	Catalytic	Missense	Hom	Costa Rica	<1	<1		3, 23
Gly381Asp	Exon 8	Catalytic	Missense	Hom	Oman	<1	Normal	Expressed	45
Pro382Leu	Exon 8	Catalytic	Missense	Hom		<1	10		42
His383Gln Trp421Arg	Exon 8 Exon 8	Catalytic Catalytic	Missense Missense	Comp het		6			32
Ala404Thr (Nottingham)	Exon 8	Catalytic	Missense	Hom		1-3	110		46
Arg405Gly (Taunton)	Exon 8	Catalytic	Missense	Het		54	98		46
Lys408Asn (San Giovanni Rotondo)	Exon 8	Catalytic	Missense	Hom		16	98		22
Ile411Phe (Leicester)	Exon 8	Catalytic	Missense	Hom	Gujarati Indian	<1	8		47
Del exons 7-8 Undefined			Big deletion	Comp het		4	<10		48
Gene deletion ? Del exons 7-8			Big deletion	Comp het		1	18		49

Nucleotide numbers are based on the Genebank file NM_000504 using the A (nucleotide 26) of the ATG initiator methionine as +1.
*A Mutation that was identified in more than 1 family.
# Value was obtained by personal communication with the authors

References

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