Factor IX Variant Database

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MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 6 unique variants retrieved

c.676C>G

p.Arg226Gly (180)

Mutation Type:

Point

Domain:

Act-Peptide

Nucleotide number:

20518

Mutation Effect:

Missense

Location:

Exon(6)

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	90		Severe	II		Spain	-	Solera et al (1991)
2	<1	64		Severe	II			-	Centre B1 (unpublished)
3	12.2	-		Mild	-		Turkey	-	Onay et al (2003)
4	-	-			-		Turkey	-	Onay et al (2003)
5	<1	85		Severe	II		France	Also has p.Phe224Leu polymorphism	Ghanem et al (1993)
6	-	-	Sporadic	Severe	-	NO	China	-	Yu et al (2012)
7	-	-		Severe	-		USA	-	Li et al (2014)
8	-	-		moderate	-		Egypt	-	El-Kamah et al (2021)
9	-	-		moderate	-		Egypt	-	El-Kamah et al (2021)

c.676C>T

p.Arg226Trp (180)

Mutation Type:

Point

Domain:

Act-Peptide

Nucleotide number:

20518

Mutation Effect:

Missense

Location:

Exon(6)

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	<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1	-	Severe	-			-	Centre B19 (unpublished)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1	-	Severe	-			-	Centre B31 (unpublished)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)

c.677G>A

p.Arg226Gln (180)

Mutation Type:

Point

Domain:

Act-Peptide

Nucleotide number:

20519

Mutation Effect:

Missense

Location:

Exon(6)

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	120		Severe	II		France	-	Vidaud (1990)
2	<1	112		Severe	II		Netherlands	-	Bertina et al (1990)
3	<1	-		Severe	-		Germany	-	Knobloch et al (1993)
4	<1	-		Severe	-		Germany	-	Knobloch et al (1993)
5	3	100		Moderate	II		USA	-	Bottema et al (1990)
6	<1	100		Severe	II		USA	-	Thompson et al (1992)
7	2	120		Moderate	II		Canada	-	Fraser et al (1992)
8	<1	5		Severe	II		France	-	Tartary et al (1993)
9	<1	-		Severe	-		Denmark	-	Nielsen et al (1995)
10	<1	-	Familial	Severe	-		India	-	Jayandharan et al (2005)
11	<1	-	Sporadic	Severe	-		India	-	Jayandharan et al (2005)
12	<1	-		Severe	-		Denmark	-	Nielsen et al (1995)
13	-	-			-		Turkey	-	Onay et al (2003)
14	-	-		Severe	-		Italy	-	Belvini et al (2005)
15	<1	-		Severe	-		Denmark	-	Nielsen et al (1995)
16	-	-			-		Germany	-	Wulff et al (1995)
17	-	-			-		Germany	-	Wulff et al (1995)
18	<1	-		Severe	-			-	Centre B31 (unpublished)
19	<1	-		Severe	-		Germany	-	Wulff et al (1998)
20	-	-			-			-	Centre B31 (unpublished)
21	<1	-		Severe	-			-	Centre B3 (unpublished)
22	<1	-		Severe	-		Germany	-	Wulff et al (1998)
23	-	-			-		Germany	-	Wulff et al (1998)
24	<1	129		Severe	II			-	Centre B15 (unpublished)
25	<1	-		Severe	-		Germany	-	Ivaskevicius et al (2001)
26	<1	-		Severe	-		Spain	-	Montejo et al (1999)
27	<1	100		Severe	II			-	Centre B39 (unpublished)
28	-	-			-		Germany	-	Wulff et al (1998)
29	5	-		Moderate	-		Mexico	-	Jaloma-Cruz et al (2000)
30	<1	-		Severe	-		Mexico	-	Jaloma-Cruz et al (2000)
31	-	-		Severe	-		China	-	Liu et al (2000)
32	-	-		Severe	-		USA	-	Li et al (2000)
33	-	-			-		Germany	-	Wulff et al (1998)
34	-	-			-		Germany	-	Wulff and Herrmann (1999)
35	<1	-		Severe	-			-	Centre B37 (unpublished)
36	<1	-		Severe	-			-	Centre B37 (unpublished)
37	<1	-		Severe	-			-	Centre B37 (unpublished)
38	1	-		Moderate	-			-	Centre B37 (unpublished)
39	<1	-		Severe	-		India	-	Mahajan et al (2007)
40	-	-			-		Germany	-	Wulff et al (1998)
41	-	-			-		Germany	-	Wulff et al (1998)
42	<1	-		Severe	-		Germany	-	Wulff et al (1998)
43	-	-			-			-	Centre B37 (unpublished)
44	2	-		Moderate	-			-	Centre B14 (unpublished)
45	<1	-		Severe	-			-	Centre B26 (unpublished)
46	<1	120		Severe	II		USA	-	Huang et al (1989)
47	<1	-	Sporadic	Severe	-	NO	Argentina	-	Radic et al (2013)
48	-	-	Sporadic	Severe	-	NO	China	-	Yu et al (2012)
49	-	-	Sporadic	Severe	-	NO	China	-	Yu et al (2012)
50	-	-		Moderate	-	NO	China	-	Yu et al (2012)
51	-	-		Mild	-	NO	USA	-	Miller et al (2012)
52	-	-		Severe	-	NO	USA	-	Miller et al (2012)
53	-	-		Severe	-		China	-	Cao et al (2014)
54	<1	95		Severe	II		China	-	Guo et al (2014)
55	-	-			-		China	-	Huang et al (2020)
56	-	-			-		USA	Mod/Mild	Li et al (2014)
57	-	-			-		USA	Mod/Mild	Li et al (2014)
58	-	-			-		USA	Mod/Mild	Li et al (2014)
59	-	-			-		China	-	Liu et al (2013)
60	-	-			-		China	-	Liu et al (2013)
61	1	-		Moderate	-		China	-	Lu et al (2015)
62	-	-		Severe	-		Brazil	-	Meireles et al (2017)
63	-	-		Severe	-		Brazil	-	Meireles et al (2017)
64	1	-		Severe	-		China	-	Wang et al (2013)
65	0.7	110		Severe	II		China	-	Wang et al (2016)
66	-	-		severe	-		Italy	-	Branchini et al (2022)
67	-	-		severe	-		Italy	-	Branchini et al (2022)
68	-	-		severe	-		Italy	-	Branchini et al (2022)
69	-	-			-		Japan	-	Shinozawa et al (2021)

c.677G>C

p.Arg226Pro (180)

Mutation Type:

Point

Domain:

Act-Peptide

Nucleotide number:

20519

Mutation Effect:

Missense

Location:

Exon(6)

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	-	-			-		Germany	-	Wulff and Herrmann (1999)
2	<1	-		Severe	-			-	Centre B29 (unpublished)

c.677G>T

p.Arg226Leu (180)

Mutation Type:

Point

Domain:

Act-Peptide

Nucleotide number:

20519

Mutation Effect:

Missense

Location:

Exon(6)

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	-	Moderate	-	New Zealand	-	Van de Water et al (1996)
2	<1	73	Severe	II	Taiwan	-	Lin et al (1993)
3	<1	130	Severe	II	Netherlands	-	Bertina et al (1990)
4	<1	117	Severe	II	Germany	-	Wulff et al (1999)
5	-	-		-	China	-	Huang et al (2020)

c.678G>T

p.Arg226Arg (180)

Mutation Type:

Polymorphism

Domain:

Act-Peptide

Nucleotide number:

20520

Mutation Effect:

Silent

Location:

Exon(6)

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 (Polymorphism | Silent) of mutation at Exon 6.

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: 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