Factor IX Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 4 unique variants retrieved

c.223C>G

p.Arg75Gly (29)

Mutation Type:

Point

Domain:

Gla

Nucleotide number:

6460

Mutation Effect:

Missense

Location:

Exon(2)

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	-	-			-		USA	-	Johnsen et al (2017)

c.223C>T

p.Arg75* (29)

Mutation Type:

Point

Domain:

Gla

Nucleotide number:

6460

Mutation Effect:

Nonsense

Location:

Exon(2)

CpG:

No. of patients reported:

104

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 2.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	0	-		Severe	-			-	Centre B37 (unpublished)
2	<1	<1		Severe	-		USA	-	Koeberl et al (1990)
3	<1	7		Severe	II		USA	-	Koeberl et al (1990)
4	<1	<0.1		Severe	-	YES	United Kingdom	-	Green et al (1989)
5	<1	2		Severe	II		United Kingdom	-	Montandon et al (1989)
6	1	-		Moderate	-		United Kingdom	-	Green et al (1990)
7	-	-			-		Pakistan	-	Nawaz et al (2008)
8	<1	-		Severe	-		South Korea	-	Kwon et al (2008)
9	<1	<1		Severe	-		Germany	-	Knobloch et al (1993)
10	<1	-		Severe	-		United Kingdom	-	Green et al (1992)
11	<1	<1		Severe	-		United Kingdom	-	Green et al (1992)
12	<1	<1		Severe	-		Taiwan	-	Lin et al (1991)
13	<1	<1		Severe	-		Taiwan	-	Lin et al (1991)
14	<1	-	Familial	Severe	-		India	-	Jayandharan et al (2005)
15	<1	-		Severe	-		Germany	-	Ivaskevicius et al (2001)
16	-	-			-		United Kingdom	-	Saad et al (1994)
17	-	-		Severe	-		Italy	-	Belvini et al (2005)
18	<1	<1		Severe	-	YES	USA	-	Thompson et al (1992)
19	<1	-		Severe	-		Germany	-	Knobloch et al (1993)
20	<1	-		Severe	-		Germany	-	Wulff et al (1995)
21	<1	<1		Severe	-			-	Centre B7 (unpublished)
22	<1	-		Severe	-		United Kingdom	-	Saad et al (1994)
23	<1	-		Severe	-		France	-	Costa et al (2000)
24	<1	<1		Severe	-		France	-	Tartary et al (1993)
25	<1	-		Severe	-		Germany	-	Wulff et al (1995)
26	<1	-		Severe	-		Germany	-	Wulff et al (1995)
27	<1	-		Severe	-		Germany	-	Wulff et al (1995)
28	<1	<1		Severe	-		USA	-	Gostout et al (1993)
29	-	-		Severe	-		USA	-	Bottema et al (1993)
30	-	-		Severe	-		USA	-	Bottema et al (1993)
31	1.6	<1		Moderate	I		USA	-	Bottema et al (1993)
32	1.9	<1		Moderate	I		USA	-	Gostout et al (1993)
33	<1	-		Severe	-	YES	United Kingdom	-	Saad et al (1994)
34	<1	-		Severe	-			-	Centre B13 (unpublished)
35	<1	-		Severe	-	YES		-	Centre B31 (unpublished)
36	-	-			-			-	Centre B31 (unpublished)
37	<1	-		Severe	-			-	Centre B31 (unpublished)
38	<1	-		Severe	-			-	Centre B12 (unpublished)
39	<1	-		Severe	-			-	Centre B3 (unpublished)
40	<1	-		Severe	-	YES	Germany	-	Wulff et al (1995)
41	<1	-		Severe	-		India	-	Mahajan et al (2004)
42	<1	<1		Severe	-	YES	Sweden	-	Ljung et al (2001)
43	<1	<1		Severe	-	YES	Sweden	-	Ljung et al (2001)
44	<1	<1		Severe	-		USA	-	Weinmann et al (1998)
45	<1	<1		Severe	-			-	Centre B36 (unpublished)
46	<1	-		Severe	-			-	Centre B10 (unpublished)
47	-	-			-		Spain	-	Montejo et al (1999)
48	<1	-		Severe	-			-	Centre B14 (unpublished)
49	-	-			-		USA	-	Thompson et al (1990)
50	-	-			-		Germany	-	Wulff et al (1998)
51	<1	<1		Severe	-		France	-	Attali et al (1999)
52	<1	-		Severe	-		USA	-	Li et al (2000)
53	<1	<1		Severe	-			-	Centre B39 (unpublished)
54	-	-		Severe	-		China	-	Liu et al (2000)
55	-	-		Severe	-		China	-	Liu et al (2000)
56	-	-		Severe	-		China	-	Liu et al (2000)
57	-	-			-		Germany	-	Wulff et al (1998)
58	<1	<1		Severe	-			-	Centre B26 (unpublished)
59	-	-			-			-	Centre B22 (unpublished)
60	<1	-		Severe	-			-	Centre B39 (unpublished)
61	-	-			-		Germany	-	Wulff et al (1998)
62	-	-			-		Germany	-	Wulff et al (1998)
63	1	-		Moderate	-			-	Centre B37 (unpublished)
64	<1	-		Severe	-			-	Centre B39 (unpublished)
65	<1	-		Severe	-			-	Centre B5 (unpublished)
66	<1	-		Severe	-		India	-	Mahajan et al (2004)
67	<1	-		Severe	-		India	-	Mahajan et al (2004)
68	<1	-		Severe	-	NO	Malaysia	-	Balraj et al (2012)
69	1.8	-		Moderate	-	NO	Malaysia	-	Balraj et al (2012)
70	<1	-	Sporadic	Severe	-	YES	Argentina	-	Radic et al (2013)
71	<1	-	Sporadic	Severe	-	NO	Argentina	-	Radic et al (2013)
72	-	-	Sporadic	Severe	-	NO	China	-	Yu et al (2012)
73	-	-		Severe	-	NO	China	-	Yu et al (2012)
74	<1	-		Severe	-		Sweden	-	Halldén et al (2013)
75	<1	-		Severe	-		Sweden	-	Halldén et al (2013)
76	-	-			-		China	-	Huang et al (2020)
77	1.1	-		Moderate	-		Pakistan	-	Khan et al (2018)
78	1.3	-		Moderate	-		Pakistan	-	Khan et al (2018)
79	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
80	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
81	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
82	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
83	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
84	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
85	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
86	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
87	-	-			-	YES	USA	Severe/Moderate	Li et al (2014)
88	0.9	-		Severe	-		Taiwan	-	Lin et al (2014)
89	-	-		Severe	-		Brazil	-	Meireles et al (2017)
90	-	-		Severe	-		Brazil	-	Meireles et al (2017)
91	-	-		Severe	-		Brazil	-	Meireles et al (2017)
92	0.2	-		Severe	-	NO	Colombia	-	Parrado Jara et al (2020)
93	-	-		Severe	-	YES	USA	Hispanic	Saini et al (2015)
94	-	-		Severe	-	YES	USA	Hispanic	Saini et al (2015)
95	-	-		Severe	-		Italy	-	Salviato et al (2019)
96	-	-		Severe	-		Mexico	-	Villarreal-Martínez et al (2020)
97	-	-		Severe	-		Mexico	-	Villarreal-Martínez et al (2020)
98	1	-		Severe	-		China	-	Wang et al (2013)
99	-	-		Severe	-		Malaysia	Malay	Zahari et al (2018)
100	<1	-		Severe	-	YES	China	-	Zhou et al (2015)
101	1.2	-		Moderate	-	YES	China	-	Zhou et al (2015)
102	<0.01	-		severe	-	YES	India	-	Kulkarni et al (2021)
103	<0.01	-		severe	-	NO	India	-	Kulkarni et al (2021)
104	-	-			-		Japan	-	Shinozawa et al (2021)

c.224G>A

p.Arg75Gln (29)

Mutation Type:

Point

Domain:

Gla

Nucleotide number:

6461

Mutation Effect:

Missense

Location:

Exon(2)

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	37	-	Mild	-		USA	-	Koeberl et al (1990)
2	30	-	Mild	-		USA	-	Koeberl et al (1989)
3	20	70	Mild	II		USA	-	Chen et al (1991a)
4	19	-	Mild	-		France	-	Ghanem et al (1993)
5	18	-	Mild	-		New Zealand	-	Van de Water et al (1996)
6	10	77	Mild	II		USA	-	Thompson and Chen (1992)
7	-	-		-		United Kingdom	-	Saad et al (1994)
8	18	51	Mild	II		USA	-	Bottema et al (1993)
9	-	-		-			-	Centre B31 (unpublished)
10	25	-	Mild	-		New Zealand	-	Van de Water et al (1996)
11	29	-	Mild	-			-	Centre B31 (unpublished)
12	35	-	Mild	-			-	Centre B31 (unpublished)
13	31	-	Mild	-			-	Centre B12 (unpublished)
14	47	-	Mild	-			-	Centre B31 (unpublished)
15	33	-	Mild	-			-	Centre B31 (unpublished)
16	20	-	Mild	-			-	Centre B37 (unpublished)
17	-	-	Mild	-		Italy	-	Belvini et al (2005)
18	-	-	Mild	-	NO	USA	-	Miller et al (2012)
19	-	-	Mild	-		USA	-	Li et al (2014)
20	-	-	Mild	-		USA	-	Li et al (2014)
21	-	-	Mild	-		Brazil	-	Meireles et al (2017)
22	-	-	Mild	-		Brazil	-	Meireles et al (2017)
23	-	-	Mild	-		Brazil	-	Meireles et al (2017)
24	-	-	Severe	-		Mexico	-	Villarreal-Martínez et al (2020)

c.224G>C

p.Arg75Pro (29)

Mutation Type:

Point

Domain:

Gla

Nucleotide number:

6461

Mutation Effect:

Missense

Location:

Exon(2)

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	-		Moderate	-		USA	-	Thorland et al (1995)

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: 4 unique variants retrieved

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