2007 Mutations in patients with prothrombin deficiency

Mutations in patients with prothrombin deficiency

Mutation (Name)	Location	Domain	Type	Genotype	Origin	Activity U/dL	Antigen U/dL	Studies of dysfunctional protein	Comments	reference
Arg-4Gln ( Edmonton) Del half of intron 10 and most of exon 11	Exon 2 Intron 10 /Exon 11	Prepro Catalytic	Missense Deletion	Comp het	Caucasian	8				1
Arg-2Trp*	Exon 2	Prepro	Missense	Hom	Iran	8	8			2
Arg-2Trp*	Exon 2	Prepro	Missense	Hom	Iran	9	6			2
Arg-1Gln	Exon 2	Prepro	Missense	Homo	Iran	9	14			2
Glu7Lys	Exon 2	Prepro	Missense	Homo						3
Glu16Gln (Puerto Rico II) Arg457Gln* ( Puerto Rico I)	Exon 2 Exon 12	Gla Catalytic	Missense Missense	Comp het	Puerto Rico	9	35			4
Glu29Gly ( Shanghai)	Exon 2	Gla	Missense	Hom	China	7	32			5
IVS2-25 C>G Trp569stop	Intron 2 Exon 14	Catalytic	Splicing Nonsense	Comp het	Netherlands	3	2			6
Tyr44Cys*	Exon 3	Kringle 1	Missense	Hom	Netherlands	2	5			7, 8
Tyr44Cys* (Carora)	Exon 3	Kringle 1	Missense	Hom	Venezuela	4	<5			9
IVS5+1 G>A Arg457Gln*	Intron 5 Exon 12	Catalytic	Splicing Missense	Comp het	Puerto Rico	8	18			4
Asp118Tyr Arg220Cys	Exon 6 Exon 7	Kringle 1 Kringle 2	Missense Missense	Comp het	Italy	26	14			2
nt 468 insT Arg418Trp* ( Tokushima)	Exon 6 Exon 11	Kringle 1 Catalytic	Frameshift Missense	Comp het	Japan	12	42	Purified		10, 11
Cys138Tyr Trp357Cys	Exon 6 Exon 10	Kringle 1 Catalytic	Missense Missense	Comp het	Italy	<1	<1		Prophylaxis	12
nt 877 del G Arg340Trp	Exon 8 Exon 10	Kringle 2 Catalytic	Frameshift Missense	Comp het	African American	8	4			13, 14
Arg271Cys* ( Barcelona)	Exon 8	Activation cleavage site	Missense	Hom		5	100		Amino acid sequencing	15, 16
Arg271Cys* ( Madrid)	Exon 8	Activation cleavage site	Missense	Hom	Spain	3	103	Purified	Amino acid sequencing	17, 18, 19
Arg271Cys* (Obihiro)	Exon 8	Activation cleavage site	Missense	Hom	Japan	18	105			20
Arg271Cys*	Exon 8	Activation cleavage site	Missense	Hom	India	10				21
Arg271His* ( Padua)	Exon 8	Activation cleavage site	Missense	Het		52	100	Plasma studied		22, 23
Arg271His* (Dhahran)	Exon 8	Activation cleavage site	Missense	Hom	Saudi Arabia	5	95			24
Arg271His* nt 1718 del GT and His562Arg	Exon 8 Exon 14	Activation cleavage site Catalytic	Missense Frameshift	Comp het	Bangladesh	2	26			25
Glu300Lys Glu309Lys* ( Denver)	Exon 9 Exon 9	Catalytic Catalytic	Missense Missense	Comp het		5	21	Plasma studied		26, 27
nt 1032 del GAA*	Exon 9	Catalytic	Del Amino acid 302	Hom	Iran	7	15	Expressed		2, 28, 29
nt 1032 del GAA*	Exon 9	Catalytic	Del Amino acid 302	Hom	Iran	1	10			2
nt 1032 del GAA*	Exon 9	Catalytic	Del Amino acid 302	Hom	India	5				21
Glu309Lys*	Exon 9	Catalytic	Missense	Hom	India	8				21
Gly319Arg ( Segovia)	Exon 9	Catalytic	Missense	Hom		7	130	Purified		30, 31, 32
Arg320His* ( San Antonio)	Exon 9	Activation cleavage site	Missense	Het		44	115	Plasma studied		33
Gly330Ser	Exon 9	Catalytic	Missense	Hom		5	40	Expressed		2, 34
Met337Thr (Himi I) Arg388His ( Himi II)	Exon 10 Exon 10	Catalytic Catalytic	Missense Missense	Comp het	Japan	10	Normal	Purified		35, 36
Ser354Arg	Exon 10	Catalytic	Missense	Hom		14	14			2
Ala362Thr (Vellore I) Arg-1Gln*	Exon 10 Exon 2	Catalytic Prepro	Missense	Comp het		18				21
Arg382His	Exon 10	Catalytic	Missense	Hom	Iran	1	61	Expressed		2, 37
Arg382Cys* (Quick I) Gly558Val (Quick II)	Exon 10 Exon 14	Catalytic Catalytic	Missense Missense	Comp het		<2		Purified	Amino acid sequencing	38, 39
Arg382Cys* ( Corpus Christi) Gln541stop	Exon 10 Exon 14	Catalytic Catalytic	Missense Nonsense	Comp het	Hispanic	2	25	Purified		24
Arg418Trp Unknown ( Molise)	Exon 11	Catalytic	Missense	Comp het		10	50	Purified		40, 41, 42
Arg457Gln* nt19771 del 5 bp	Exon 12 Exon 13	Catalytic Catalytic	Missense Frameshift	Comp het	Puerto Rico	6	15			4
Arg457Gln*	Exon 12	Catalytic	Missense	Hom	Puerto Rico	15	28			4
Arg457Gln*	Exon 12	Catalytic	Missense	Hom	Puerto Rico	19	40			4
Glu466Ala* (Salakta)	Exon 12	Catalytic	Missense		Tunis	15-18	100	Purified	Amino acid sequencing	43, 44, 45
Glu466Ala* ( Frankfurt) *	Exon 12	Catalytic	Missense	Hom	Tunis	13,20	91			46
Arg517Gln ( Greenville)	Exon 13	Catalytic	Missense	Het	Caucasian	51	102	Plasma studied		47
Arg538Cys*	Exon 14	Catalytic	Missense	Hom	Italy- Cicely	7	6			2
Arg538Cys*	Exon 14	Catalytic	Missense	Hom	Italy- Cicely	4	4			2
Gly548Ala* (Perija)	Exon 14	Catalytic	Missense	Hom	Yukba Indian Venezuela	2	70	Plasma studied	High (35%) prothrombin deficiency frequency in the village	48, 49, 50
Lys556Thr ( Scranton)	Exon 14		Missense	Het	USA	58	110			51

Nucleotide numbers are based on the Genebank file NM_000506 using the A (nucleotide 32) of the ATG initiator methionine as +1.
*A Mutation that was identified in more than 1 family

References

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