Factor VII Variant Database

Data Export Options:

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MULTIPLE (With Patient Data) :

EXCEL/CSV

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Search Results: 3 unique variants retrieved

c.1237C>G

p.Arg413Gly (Legacy AA No. 353)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > CGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
586	30_<50			UK	Heterozygous	-		Haemorrhages and Thrombosis	Herrmann et al 2009

c.1238G>A

p.Arg413Gln (Legacy AA No. 353)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > CAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

110

Allele Frequency (MAF):

0.1341

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
108		<2	<2	4	Homozygous	2	moderate		Arbini et al 1994
58		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
103		<2	<2	3	Homozygous	2	severe		Arbini et al 1994
59		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
104		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
110		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
60		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
105		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
118		5	11	47	Homozygous	1	moderate		Arbini et al 1994
204		<1		<1	Homozygous	4	severe		Carew et al 1998
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
9		<1		2	Homozygous	3	mild		Hunault et al 1999
50		2		4	Homozygous	2	asymptomatic		Millar et al 2000
303		1		4	Homozygous	2	unknown		Millar et al 2000
51		9		10	Homozygous	2	asymptomatic		Millar et al 2000
239		1		9	Homozygous	2	severe		Millar et al 2000
316	low				Homozygous	2	severe		Millar et al 2000
296		1		19	Homozygous	2	severe		Millar et al 2000
240					Heterozygous	2	unknown		Millar et al 2000
37			4		Homozygous	5	asymptomatic		Tamary et al 1996
34			7	7	Homozygous	5	asymptomatic		Tamary et al 1996
31			5	9	Homozygous	5	asymptomatic		Tamary et al 1996
28			7		Homozygous	5	asymptomatic		Tamary et al 1996
38			5		Homozygous	5	asymptomatic		Tamary et al 1996
35			3	5	Homozygous	5	asymptomatic		Tamary et al 1996
32			4		Homozygous	5	asymptomatic		Tamary et al 1996
29			9.4		Homozygous	5	asymptomatic		Tamary et al 1996
39			5.5		Homozygous	5	asymptomatic		Tamary et al 1996
36			14		Homozygous	5	asymptomatic		Tamary et al 1996
33			6		Homozygous	5	asymptomatic		Tamary et al 1996
30			9		Homozygous	5	asymptomatic		Tamary et al 1996
27			3.5		Homozygous	5	asymptomatic		Tamary et al 1996
57		6		61	Homozygous	6	unknown		Wulff et al 2000
102		3		4	Homozygous	6	unknown		Wulff et al 2000
87		<1		<1	Homozygous	7	unknown		Wulff et al 2000
345			38		Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
90			12	14	Heterozygous	3	asymptomatic	FVII MALTA I & II	Alshinawi et al 1998
392			45	57	Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
15			27	41	Heterozygous	2	unknown	FVII MALTA I	Alshinawi et al 1998
111		40	44	45	Heterozygous	2	asymptomatic		Arbini et al 1994
112		52	44	43	Heterozygous	2	mild		Arbini et al 1994
171		45	30	50	Homozygous	1	asymptomatic		Arbini et al 1994
113		38	27	34	Heterozygous	2	asymptomatic		Arbini et al 1994
230		73	75	82	Heterozygous	1	asymptomatic		Arbini et al 1994
369		<1		<1	Heterozygous	2	severe		Arbini et al 1996
11		27		35	Homozygous	4	asymptomatic		Bernardi et al 1993
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
22		43		42	Homozygous	5	asymptomatic		Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
144		35		64	Heterozygous	3	asymptomatic		Bernardi et al 1994a
128		33		70	Heterozygous	3	asymptomatic		Bernardi et al 1994a
381		59		98	Heterozygous	3	unknown		Bernardi et al 1994b
101		7		25	Heterozygous	4	unknown		Bernardi et al 1994b
254		44		40	Heterozygous	3	unknown		Bernardi et al 1994b
61		50		87	Heterozygous	3	asymptomatic		Bernardi et al 1996
99		44		49	Heterozygous	3	asymptomatic		Bernardi et al 1996
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
83		48		108	Heterozygous	3	asymptomatic		Bernardi et al 1996
145		39		104	Heterozygous	3	asymptomatic		Bernardi et al 1996
98		60		50	Heterozygous	3	unknown		Bernardi et al 1996
153		2			Homozygous	7	mild	Female	Giansily-Blaizot et al 2001
134		3		23	Heterozygous	5	mild		Giansily-Blaizot et al 2001
225		<1			Heterozygous	7	severe		Giansily-Blaizot et al 2001
347		2			Heterozygous	5	mild		Giansily-Blaizot et al 2001
155		4		48	Homozygous	8	mild		Giansily-Blaizot et al 2001
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
359	2				Heterozygous	4	mild	other mutation unknown	Giansily-Blaizot et al 2001
344		3		10	Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
109	28				Homozygous	1	unknown		Herrmann et al 1997
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993
175		1		19	Heterozygous	2	severe		Millar et al 2000
294		2		7	Homozygous	3	severe		Millar et al 2000
164		15			Heterozygous	2	mild		Millar et al 2000
281		45			Homozygous	2	mild		Millar et al 2000
120		25			Heterozygous	2	unknown		Millar et al 2000
186		7		43	Homozygous	3	unknown		Millar et al 2000
295		28		34	Homozygous	2	asymptomatic		Millar et al 2000
20		21		25	Heterozygous	2	mild		Millar et al 2000
62		50			Heterozygous	2	mild		Millar et al 2000
288		23		38	Heterozygous	2	asymptomatic		Millar et al 2000
246		4		1	Homozygous	3	mild		Millar et al 2000
7		3			Heterozygous	3	asymptomatic		Millar et al 2000
335		30		64	Heterozygous	2	moderate		Millar et al 2000
173		1		9	Heterozygous	3	severe		Millar et al 2000
290		33		21	Homozygous	2	asymptomatic		Millar et al 2000
162		15		21	Heterozygous	2	moderate		Millar et al 2000
302		10	10	52	Heterozygous	3	asymptomatic		Takamiya et al 1993
40			5		Homozygous	6	asymptomatic		Tamary et al 1996
47			28		Homozygous	10	asymptomatic		Tamary et al 1996
44			33		Heterozygous	5	asymptomatic		Tamary et al 1996
41			19		Heterozygous	10	asymptomatic		Tamary et al 1996
48			32		Homozygous	5	asymptomatic		Tamary et al 1996
45			31		Homozygous	5	asymptomatic		Tamary et al 1996
42			46		Heterozygous	10	asymptomatic		Tamary et al 1996
49			25		Homozygous	5	asymptomatic		Tamary et al 1996
46			39		Heterozygous	14	asymptomatic		Tamary et al 1996
43			33		Heterozygous	5	asymptomatic		Tamary et al 1996
413	28				Heterozygous	5	Mild		Unpublished Submission
388	32				Homozygous	5	Severe	Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp	Unpublished Submission
414	29				Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission
415	30			16	Heterozygous	5	Mild	Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC	Unpublished Submission
410			23	24	Heterozygous	6	asymptomatic		Unpublished Submission
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000
237		<1			Heterozygous	4	unknown	other lesion unknown	Wulff et al 2000
328	9			31	Homozygous	7	mild		Wulff et al 2000

c.1238G>C

p.Arg413Pro (Legacy AA No. 353)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCG > CGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
433			2	10	Heterozygous	1	Mild		Zhidong et al 2007

Factor VII Variant Database

Factor VII Gene (F7)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Search Results: 3 unique variants retrieved

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR