In Depth Mutation Analysis: c.676C>T (p.Arg226Trp)

c.676C>T

p.Arg226Trp (180)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Act-Peptide

Location:

Exon 6

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	-	Severe	-		Turkey	-	Onay et al (2003)
2	<1	130	Severe	II		Netherlands	-	Bertina et al (1990)
3	<1	69	Severe	II		Germany	-	Ludwig et al (1992)
4	<1	-	Severe	-		USA	-	Demers et al (1990)
5	<1	74	Severe	II		USA	-	Driscoll et al (1989)
6	<1	95	Severe	II		USA	-	Driscoll et al (1989)
7	<1	120	Severe	II		Japan	-	Hamaguchi et al (1991)
8	<1	-	Severe	-		France	-	Ghanem et al (1993)
9	<1	50	Severe	II		USA	-	Thompson and Chen (1992)
10	<1	110	Severe	II		USA	-	Thompson and Chen (1992)
11	<1	45	Severe	II		USA	-	Ketterling et al (1993)
12	1.3	-	Moderate	-		South Korea	-	Kwon et al (2008)
13	2	-	Moderate	-		France	-	Tartary et al (1993)
14	<1	-	Severe	-		Denmark	-	Nielsen et al (1995)
15	-	-		-		Denmark	-	Nielsen et al (1995)
16	-	-	Severe	-		Italy	-	Belvini et al (2005)
17	<1	-	Severe	-			-	Centre B19 (unpublished)
18	-	-	Severe	-		USA	-	Bottema et al (1993)
19	5	-	Moderate	-		United Kingdom	-	Saad et al (1994)
20	<1	-	Severe	-			-	Centre B31 (unpublished)
21	<1	-	Severe	-		USA	-	Driscoll et al (1996)
22	<1	-	Severe	-		USA	-	Driscoll et al (1996)
23	<1	77	Severe	II		Germany	-	Wulff et al (1999)
24	<1	-	Severe	-		Germany	-	Wulff et al (1998)
25	-	-		-		Pakistan	-	Nawaz et al (2008)
26	<1	-	Severe	-		USA	-	Driscoll et al (1996)
27	<1	-	Severe	-		USA	-	Driscoll et al (1996)
28	1	-	Moderate	-			-	Centre B36 (unpublished)
29	<1	59	Severe	II			-	Centre B15 (unpublished)
30	<1	-	Severe	-		France	-	Costa et al (2000)
31	<1	-	Severe	-			-	Centre B25 (unpublished)
32	-	-		-		China	-	Liu et al (2000)
33	-	-	Severe	-		China	-	Liu et al (2000)
34	<1	-	Severe	-			-	Centre B22 (unpublished)
35	<1	-	Severe	-		Germany	-	Wulff et al (1998)
36	-	-		-		Germany	-	Wulff et al (1998)
37	<1	-	Severe	-		Germany	-	Wulff et al (1998)
38	-	-		-			-	Centre B37 (unpublished)
39	0.3	-	Severe	-			-	Centre B37 (unpublished)
40	0	-	Severe	-			-	Centre B37 (unpublished)
41	<1	-	Severe	-		Tunisia	-	Elmahmoudi et al (2011)
42	<1	100	Severe	II		USA	-	Gonatas et al (1989)
43	<1	-	Severe	-	NO	India	-	Jayandharan et al (2009)
44	-	-	Moderate	-	NO	China	-	Yu et al (2012)
45	-	-	Moderate	-		China	-	Cao et al (2014)
46	-	-		-		China	-	Huang et al (2020)
47	-	-		-		China	-	Huang et al (2020)
48	-	-		-		China	-	Huang et al (2020)
49	-	-	Severe	-		USA	-	Li et al (2014)
50	1.9	-	Moderate	-		China	-	Lu et al (2015)
51	0.2	76	Severe	II		China	-	Wang et al (2016)
52	4	-	moderate	-	YES	India	-	Kulkarni et al (2021)
53	0.5	-	severe	-	YES	India	-	Kulkarni et al (2021)
54	0.1	-	severe	-	NO	India	-	Kulkarni et al (2021)
55	<0.01	-	severe	-	NO	India	-	Kulkarni et al (2021)
56	0.01	-	severe	-	NO	India	-	Kulkarni et al (2021)
57	<0.01	-	severe	-		India	-	Kulkarni et al (2021)
58	-	-		-		India	-	Agrawal et al (2022)
59	-	-	severe	-		Italy	-	Branchini et al (2022)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acycli	large	hydrophilic	postive
Mutated	Trp	aroma	cyclic	large	hydrophobic	neutral

Structural Implications :

Structural analysis is restricted to the mature protein. No structural information is available for this residue because it is not present in the active FIXa molecule model that has been constructed.

This residue is in a proposed Cleavage site [cleavage by FXIa]

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Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.676C>T (p.Arg226Trp)

Patient Information : Show

Residue Information :

Structural Implications :