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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1147C>T (p.Leu383Phe)

c.1147C>T

p.Leu383Phe (337)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

No. of bases:

1

CpG:

N

Comments:

-

No. of patients reported:

38

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	2	-	Moderate	-	Turkey	-	Onay et al (2003)
2	<1	-	Severe	-	United Kingdom	-	Rowley et al (1995)
3	4	72	Moderate	II	USA	-	Gostout et al (1993)
4	<1	-	Severe	-	India	-	Mukherjee et al (2004)
5	<1	<1	Severe	-	USA	-	Driscoll et al (1989)
6	2	<1	Moderate	I	United Kingdom	-	Green et al (1990)
7	<1	-	Severe	-	United Kingdom	-	Green et al (1990)
8	<1	<1	Severe	-	USA	-	Freedenberg et al (1989)
9	<1	<1	Severe	-	Canada	-	Tam et al (1991)
10	<1	<1	Severe	-	Canada	-	Poon et al (1987)
11	<1	<1	Severe	-	Canada	-	Poon et al (1993)
12	<1	<1	Severe	-		-	Centre B23 (unpublished)
13	<1	<1	Severe	-		-	Centre B23 (unpublished)
14	<1	<1	Severe	-		-	Centre B1 (unpublished)
15	<1	<1	Severe	-	France	-	Tartary et al (1993)
16	<1	-	Severe	-	USA	-	Gostout et al (1993)
17	1	-	Moderate	-	USA	-	Thorland et al (1995)
18	1	-	Moderate	-	USA	-	Thorland et al (1995)
19	<1	<1	Severe	-	Germany	-	Wulff et al (1999)
20	<1	-	Severe	-	USA	-	Driscoll et al (1996)
21	-	-		-	Turkey	-	Onay et al (2003)
22	<1	-	Severe	-	USA	-	Driscoll et al (1996)
23	<1	-	Severe	-	Germany	-	Wulff et al (1998)
24	<1	-	Severe	-		-	Centre B14 (unpublished)
25	<3	-		-	Germany	-	Wulff et al (1998)
26	<1	-	Severe	-		-	Centre B21 (unpublished)
27	<1	-	Severe	-	USA	-	Ketterling et al (1999)
28	<1	-	Severe	-	USA	-	Li et al (2000)
29	-	-	Severe	-	China	-	Liu et al (2000)
30	<1	-	Severe	-		-	Centre B10 (unpublished)
31	0.9	-	Severe	-		-	Centre B37 (unpublished)
32	0.5	-	Severe	-		-	Centre B37 (unpublished)
33	0	-	Severe	-		-	Centre B37 (unpublished)
34	-	-	Severe	-	Italy	-	Belvini et al (2005)
35	<1	-	Severe	-	South Korea	-	Kwon et al (2008)
36	<1	-	Severe	-	South Korea	-	Kwon et al (2008)
37	<1	<1	Severe	-	Germany	-	Ludwig et al (1989)
38	<1	-	Severe	I	India	-	Ghosh et al (2009)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Leu	aliph	acycli	large	hydrophobic	neutral
Mutated	Phe	aroma	cyclic	large	hydrophobic	neutral

Structural Implications :

Leu383 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 3).

Leu383 is in a alpha helix region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is H).

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Factor IX Variant Database