Factor IX Variant Database

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EXCEL/CSV

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MULTIPLE (With Patient Data) :

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Search Results: 6 unique variants retrieved

c.1135C>G

p.Arg379Gly (333)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31118

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(%)	Severity	Type	Country	Comments	Reference
1	<1	63	Severe	II	USA	-	Bottema et al (1991)
2	-	-	Moderate	-	Germany	-	Wulff et al (1995)
3	2	-	Moderate	-		-	Centre B37 (unpublished)
4	<1	-	Severe	-	India	-	Mukherjee et al (2004)
5	-	-	Moderate	-	Italy	-	Belvini et al (2005)

c.1135C>T

p.Arg379* (333)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31118

Mutation Effect:

Nonsense

Location:

Exon(8)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-		Moderate	-		Italy	-	Belvini et al (2005)
2	<1	<1		Severe	-		USA	-	Koeberl et al (1990)
3	<1	-		Severe	-		South Korea	-	Kwon et al (2008)
4	<1	-		Severe	-		South Korea	-	Kwon et al (2008)
5	<1	1		Severe	-		USA	-	Koeberl et al (1990)
6	6	-		Mild	-		United Kingdom	-	Montandon et al (1990)
7	<1	1		Severe	-		USA	-	Chen et al (1991a)
8	<1	<1		Severe	-		Germany	-	Knobloch et al (1993)
9	<1	<1		Severe	-		Germany	-	Knobloch et al (1993)
10	<1	<1		Severe	-		Germany	-	Knobloch et al (1993)
11	<1	<1		Severe	-			-	Centre B27 (unpublished)
12	<1	-	Sporadic	Severe	-		India	-	Jayandharan et al (2005)
13	<1	-	Sporadic	Severe	-		India	-	Jayandharan et al (2005)
14	4	<1		Moderate	I		USA	-	Bottema et al (1991)
15	<1	<1		Severe	-		USA	-	Thompson et al (1992)
16	-	-		Severe	-		USA	-	Ketterling et al (1993)
17	-	-	Sporadic	Severe	-		Ireland	-	Jenkins et al (2008)
18	<1	<1		Severe	-		Taiwan	-	Lin et al (1993)
19	1	-		Moderate	-		Portugal	-	David et al (1993)
20	<1	5		Severe	II		United Kingdom	-	Saad et al (1994)
21	<1	<1		Severe	-		Sweden	-	Ljung et al (2001)
22	-	-			-		Turkey	-	Onay et al (2003)
23	<1	-		Severe	-		France	-	Ghanem et al (1993)
24	-	-		Severe	-		USA	-	Gostout et al (1993)
25	<1	-		Severe	-		United Kingdom	-	Saad et al (1994)
26	-	-			-		United Kingdom	-	Rowley et al (1995)
27	<1	-		Severe	-		United Kingdom	-	Rowley et al (1995)
28	-	-			-		United Kingdom	-	Rowley et al (1995)
29	17	19	Familial	Mild	I		USA	-	Chen et al (1995)
30	<1	-		Severe	-			-	Centre B12 (unpublished)
31	<1	-		Severe	-		Germany	-	Wulff et al (1998)
32	<1	-		Severe	-		Germany	-	Wulff et al (1998)
33	<1	-		Severe	-		France	-	Costa et al (2000)
34	<1	<1		Severe	-		Germany	-	Wulff et al (1999)
35	-	-			-			-	Centre B18 (unpublished)
36	-	-			-			-	Centre B36 (unpublished)
37	-	-			-		Pakistan	-	Nawaz et al (2008)
38	<1	-		Severe	-			-	Centre B14 (unpublished)
39	-	-			-			-	Centre B9 (unpublished)
40	-	-			-		United Kingdom	-	Rowley et al (1995)
41	<1	<6		Severe	-			-	Centre B15 (unpublished)
42	<1	-		Severe	-		France	-	Attali et al (1999)
43	-	-		Severe	-		China	-	Liu et al (2000)
44	-	-			-		Germany	-	Wulff et al (1998)
45	<1	-		Severe	-			-	Centre B37 (unpublished)
46	<1	-		Severe	-			-	Centre B37 (unpublished)
47	<1	-		Severe	-			-	Centre B10 (unpublished)
48	-	-			-			-	Centre B22 (unpublished)
49	1	-		Moderate	-			-	Centre B22 (unpublished)
50	<1	-		Severe	-			-	Centre B26 (unpublished)
51	-	-			-		Germany	-	Wulff et al (1998)
52	-	-			-		Germany	-	Wulff et al (1998)
53	-	-			-		Germany	-	Wulff et al (1998)
54	<1	-		Severe	-			-	Centre B39 (unpublished)
55	13	17		Mild	I		USA	-	Bottema et al (1990)
56	<1	-		Severe	-		India	-	Mahajan et al (2007)
57	<1	-	Sporadic	Severe	-		Jordan	-	Awidi et al (2011)
58	<1	-		Severe	-		India	-	Jayandharan et al (2009)
59	<1	-	Familial	Severe	-	NO	Argentina	-	Radic et al (2013)
60	-	-	Familial	Severe	-	NO	China	-	Yu et al (2012)
61	-	-	Familial	Severe	-	NO	China	-	Yu et al (2012)
62	-	-	Familial	Severe	-	NO	China	-	Yu et al (2012)
63	-	-	Familial	Severe	-	NO	China	-	Yu et al (2012)
64	-	-	Sporadic	Moderate	-	NO	China	-	Yu et al (2012)
65	-	-	Sporadic	Moderate	-	NO	China	-	Yu et al (2012)
66	<1	-		Severe	-		Sweden	-	Halldén et al (2013)
67	-	-			-		China	-	Huang et al (2020)
68	-	-			-		China	-	Huang et al (2020)
69	-	-			-		China	-	Huang et al (2020)
70	2.9	-		Moderate	-	NO	Colombia	-	Parrado Jara et al (2020)
71	-	-			-		Russia	-	Surin et al (2016)
72	-	-			-		Russia	-	Surin et al (2016)
73	<1	-		Severe	-		Russia	-	Surin et al (2016)
74	-	-		Severe	-		Mexico	-	Villarreal-Martínez et al (2020)
75	1	-		Severe	-		China	-	Wang et al (2013)
76	-	-		Moderate	-		Malaysia	Malay	Zahari et al (2018)
77	<1	-		Severe	-	YES	China	-	Zhou et al (2015)
78	<1	-		severe	-	NO	Cuba	-	Borràs et al (2022)
79	-	-		severe	-		Italy	-	Branchini et al (2022)
80	-	-			-		Japan	-	Shinozawa et al (2021)

c.1135C>A

p.Arg379Gly (333)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31118

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	<1	-	Sporadic	Severe	-		India	-	Jayandharan et al (2005)

c.1136G>A

p.Arg379Gln (333)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31119

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	3	119		Moderate	II		United Kingdom	-	Green et al (1992)
2	<1	135		Severe	II		United Kingdom	-	Tsang et al (1988)
3	1	122		Moderate	II		Netherlands	-	Poort et al (1989)
4	1	75		Moderate	II		United Kingdom	-	Green et al (1989)
5	1	130		Moderate	II		United Kingdom	-	Green et al (1990)
6	2	32		Moderate	II		USA	-	Wang et al (1990)
7	<1	87		Severe	II		Canada	-	Picketts et al (1989)
8	2	38		Moderate	II		USA	-	Chen et al (1991a)
9	2	60		Moderate	II		Germany	-	Ludwig et al (1992)
10	4	86		Moderate	II		Germany	-	Ludwig et al (1992)
11	2	88		Moderate	II		Germany	-	Knobloch et al (1993)
12	4	93		Moderate	II		Germany	-	Knobloch et al (1993)
13	-	-			-		United Kingdom	-	Saad et al (1994)
14	2	80		Moderate	II		USA	-	Thompson and Chen (1992)
15	2	86		Moderate	II		USA	-	Bottema et al (1991)
16	16	140		Mild	II		Canada	-	Fraser et al (1992)
17	<1	-		Severe	-		Portugal	-	David et al (1993)
18	4	-		Moderate	-		United Kingdom	-	Saad et al (1994)
19	<1	-		Severe	-		France	-	Ghanem et al (1993)
20	<1	-		Severe	-			-	Centre B1 (unpublished)
21	1	-		Moderate	-			-	Centre B6 (unpublished)
22	2	88		Moderate	II		France	-	Tartary et al (1993)
23	-	-			-		Turkey	-	Onay et al (2003)
24	2	125		Moderate	II		France	-	Tartary et al (1993)
25	-	-		Moderate	-		USA	-	Bottema et al (1993)
26	1	-		Moderate	-			-	Centre B31 (unpublished)
27	2	-		Moderate	-			-	Centre B12 (unpublished)
28	2.5	-		Moderate	-		United Kingdom	-	Rowley et al (1995)
29	1	-		Moderate	-		United Kingdom	-	Rowley et al (1995)
30	-	-			-		United Kingdom	-	Rowley et al (1995)
31	8	108		Mild	II		United Kingdom	-	Rowley et al (1995)
32	3	-		Moderate	-		United Kingdom	-	Rowley et al (1995)
33	2	-		Moderate	-		Germany	-	Wulff et al (1998)
34	1	-		Moderate	-			-	Centre B13 (unpublished)
35	<1	-		Severe	-		Germany	-	Wulff et al (1998)
36	1	-		Moderate	-			-	Centre B13 (unpublished)
37	1	-		Moderate	-			-	Centre B14 (unpublished)
38	1	98		Moderate	II			-	Centre B15 (unpublished)
39	2	148		Moderate	II			-	Centre B15 (unpublished)
40	<1	-		Severe	-		USA	-	Heit et al (1998)
41	-	-		Severe	-		China	-	Liu et al (2000)
42	-	-		Severe	-		China	-	Liu et al (2000)
43	-	-			-		Germany	-	Wulff et al (1998)
44	-	-			-		Germany	-	Wulff et al (1998)
45	-	-			-			-	Centre B37 (unpublished)
46	<1	-		Severe	-			-	Centre B37 (unpublished)
47	<1	-		Severe	-			-	Centre B37 (unpublished)
48	1	-		Moderate	-			-	Centre B22 (unpublished)
49	<1	-		Severe	-			-	Centre B22 (unpublished)
50	<1	-		Severe	-			-	Centre B22 (unpublished)
51	1.3	-		Moderate	-			-	Centre B22 (unpublished)
52	<1	-		Severe	-			-	Centre B26 (unpublished)
53	2 to 3.5	-		Moderate	-			-	Centre B26 (unpublished)
54	-	-			-		Germany	-	Wulff et al (1998)
55	-	-			-		Germany	-	Wulff et al (1998)
56	5.2	-		Moderate	-			-	Centre B37 (unpublished)
57	3	-		Moderate	-			-	Centre B37 (unpublished)
58	15	-		Mild	-			-	Centre B37 (unpublished)
59	1 to 2	-		Moderate	-			-	Centre B14 (unpublished)
60	3	-		Moderate	-			-	Centre B14 (unpublished)
61	1.42	-		Moderate	-		India	-	Jayandharan et al (2003)
62	3	-		Moderate	-			-	Centre B11 (unpublished)
63	3	-		Moderate	-			-	Centre B11 (unpublished)
64	-	-		Mild	-		Italy	-	Belvini et al (2005)
65	6	-	Sporadic	Mild	-	NO	Argentina	-	Radic et al (2013)
66	2	-	Sporadic	Moderate	-	NO	Argentina	-	Radic et al (2013)
67	<1	-	Sporadic	Severe	-	NO	Argentina	-	Radic et al (2013)
68	-	-		Moderate	-	NO	China	-	Yu et al (2012)
69	-	-		Moderate	-	NO	China	-	Yu et al (2012)
70	-	-		Severe	-		Saudi Arabia	-	Al-Allaf et al (2017)
71	-	-		Mild	-		USA	-	Li et al (2014)
72	<1	-		Severe	-		Russia	-	Surin et al (2016)
73	16–32	-		Mild	-		Russia	Female	Surin et al (2016)
74	-	-			-		India	-	Agrawal et al (2022)
75	-	-			-		India	-	Agrawal et al (2022)

c.1136G>C

p.Arg379Pro (333)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31119

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	1.7	-		Moderate	-		Italy	-	Belvini et al (2005)

c.1136G>T

p.Arg379Leu (333)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31119

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(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	2	150	Moderate	II		USA	-	Bottema et al (1991)
2	-	-	Moderate	-	NO	China	-	Yu et al (2012)
3	-	-	Severe	-		Spain	-	García Candel (2013)
4	1.5	-	Moderate	-		China	-	Lu et al (2015)

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: 6 unique variants retrieved

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

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