Factor IX Variant Database

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UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 3 unique variants retrieved

c.1327A>C

p.Ile443Leu (397)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31310

Mutation Effect:

Missense

Location:

Exon(8)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	20	-		Mild	-			-	Centre B9 (unpublished)

c.1328T>C

p.Ile443Thr (397)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31311

Mutation Effect:

Missense

Location:

Exon(8)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	0 to 6	-		Moderate	-		USA	-	Koeberl et al (1989)
2	<1	100		Severe	II		USA	-	Ware et al (1988)
3	<1	100		Severe	II		USA	-	Spitzer et al (1990)
4	2	55		Moderate	II		USA	-	Bottema et al (1990)
5	2	65		Moderate	II		USA	-	Bottema et al (1990)
6	1	73		Moderate	II		USA	-	Bottema et al (1990)
7	4	61		Moderate	II		USA	-	Bottema et al (1990)
8	3	62		Moderate	II		Canada	-	Geddes et al (1989)
9	2	62		Moderate	II		France	-	Attree et al (1989)
10	3	70		Moderate	II		France	-	Attree et al (1989)
11	4	52		Moderate	II		France	-	Attree et al (1989)
12	1	45		Moderate	II		USA	-	Thompson et al (1990)
13	3	64		Moderate	II		USA	-	Thompson et al (1990)
14	2	75		Moderate	II		USA	-	Thompson et al (1990)
15	5	96		Moderate	II		USA	-	Thompson et al (1990)
16	4	56		Moderate	II		USA	-	Chen et al (1991a)
17	4	88		Moderate	II		USA	-	Chen et al (1991a)
18	<1	-		Severe	-		USA	-	Bottema et al (1990)
19	3	54		Moderate	II		USA	-	Bottema et al (1990)
20	8	70		Mild	II		USA	-	Ketterling et al (1991)
21	2	72		Moderate	II		USA	-	Thompson and Chen (1992)
22	<1	27		Severe	II		USA	-	Ketterling et al (1991)
23	7	-		Mild	-		USA	-	Ketterling et al (1991)
24	8	-		Mild	-		USA	-	Ketterling et al (1991)
25	-	-			-		USA	-	Ketterling et al (1991)
26	3	-		Moderate	-		USA	-	Ketterling et al (1991)
27	2	-		Moderate	-		USA	-	Ketterling et al (1991)
28	9	74		Mild	II		USA	-	Thompson and Chen (1992)
29	3	80		Moderate	II		Canada	-	Fraser et al (1992)
30	12	160		Mild	II		Canada	-	Fraser et al (1992)
31	2	100	Familial	Moderate	II		USA	-	Chen et al (1995)
32	1.5	-		Moderate	-			-	Centre B13 (unpublished)
33	4	-		Moderate	-		USA	-	Weinmann et al (1998)
34	3	-		Moderate	-		USA	-	Weinmann et al (1998)
35	5	35		Moderate	II		USA	-	Weinmann et al (1998)
36	2	62		Moderate	II			-	Centre B21 (unpublished)
37	6	-		Mild	-		France	-	Attali et al (1999)
38	1	46		Moderate	II		France	-	Attali et al (1999)
39	-	-			-			-	Centre B22 (unpublished)
40	-	-			-			-	Centre B22 (unpublished)
41	-	-			-			-	Centre B22 (unpublished)
42	-	-			-			-	Centre B39 (unpublished)
43	-	-		Moderate	-	NO	USA	-	Miller et al (2012)
44	-	-		Mild	-	NO	USA	-	Miller et al (2012)
45	-	-			-		USA	-	Li et al (2014)
46	-	-			-		USA	-	Li et al (2014)
47	-	-			-		USA	-	Li et al (2014)
48	-	-			-		USA	-	Li et al (2014)
49	-	-			-		USA	-	Li et al (2014)
50	-	-			-		USA	-	Li et al (2014)
51	-	-			-		USA	-	Li et al (2014)
52	-	-			-		USA	-	Li et al (2014)
53	-	-			-		USA	-	Li et al (2014)
54	-	-			-		USA	-	Li et al (2014)
55	-	-			-		USA	-	Li et al (2014)
56	-	-			-		USA	-	Li et al (2014)
57	-	-			-		USA	-	Li et al (2014)
58	-	-			-		USA	-	Li et al (2014)
59	-	-			-		USA	-	Li et al (2014)
60	-	-			-		USA	-	Li et al (2014)
61	-	-			-		USA	-	Li et al (2014)
62	-	-			-		USA	-	Li et al (2014)
63	-	-			-		USA	-	Li et al (2014)
64	-	-			-		USA	-	Li et al (2014)

c.1329A>G

p.Ile443Met (397)

Mutation Type:

Polymorphism

Domain:

Serine Protease

Nucleotide number:

31312

Mutation Effect:

Missense

Location:

Exon(8)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			dbSNP database	Sherry et al (1999)

Factor IX Variant Database

Factor IX Gene (F9)

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

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR