Factor IX Variant Database

Data Export Options:

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EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 8 unique variants retrieved

c.1024A>G

p.Thr342Ala (296)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31007

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1	18	-	Mild	-		-	Centre B13 (unpublished)
2	20	-	Mild	-		-	Centre B14 (unpublished)
3	-	-	Mild	-	Italy	-	Belvini et al (2005)
4	30	-	Mild	-		-	Centre B37 (unpublished)
5	-	-	Mild	-	Italy	-	Salviato et al (2019)
6	-	-	Mild	-	Italy	-	Salviato et al (2019)

c.1024A>C

p.Thr342Arg (296)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31007

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	-		Severe	-		India	-	Jayandharan et al (2003)
2	-	-		severe	-		Italy	-	Branchini et al (2022)

c.1024delA

p.Thr342Argfs*12 (296)

Mutation Type:

Deletion

Domain:

Serine Protease

Nucleotide number:

31007

Mutation Effect:

Frameshift

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 (Deletion | Frameshift) of mutation at Exon 8.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-		Moderate	-		Germany	-	Wulff et al (1995)

c.1024_1027delACGA

p.Thr342fs (296)

Mutation Type:

Deletion

Domain:

Serine Protease

Nucleotide number:

31007

Mutation Effect:

Frameshift

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 (Deletion | Frameshift) of mutation at Exon 8.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-		China	-	Huang et al (2020)

c.1025C>A

p.Thr342Lys (296)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31008

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	-	-			-		United Kingdom	-	Rowley et al (1995)
2	-	-		Mild	-		Germany	-	Wulff et al (1995)

c.1025C>T

p.Thr342Met (296)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31008

Mutation Effect:

Missense

Location:

Exon(8)

CpG:

No. of patients reported:

175

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	4	7		Moderate	II		Germany	-	Knobloch et al (1993)
2	6	7		Mild	I		Germany	-	Knobloch et al (1993)
3	5	7		Moderate	I		USA	-	Koeberl et al (1989)
4	4	15		Moderate	II		United Kingdom	-	Green et al (1991)
5	4	9		Moderate	II		Germany	-	Knobloch et al (1993)
6	6	5		Mild	I		United Kingdom	-	Green et al (1990)
7	2	6		Moderate	II		USA	-	Chen et al (1991a)
8	<1	4 to 14		Severe	-		Italy	-	Bicocchi et al (2006)
9	-	6			-		USA	-	Chen et al (1991a)
10	4	10		Moderate	II		USA	-	Chen et al (1991a)
11	5	11		Moderate	II		USA	-	Chen et al (1991a)
12	2	6		Moderate	II		USA	-	Tarnower and Smith (1991)
13	1	23		Moderate	II		USA	-	Ketterling et al (1991)
14	6	7		Mild	I		USA	-	Ketterling et al (1991)
15	5	7		Moderate	I		USA	-	Ketterling et al (1991)
16	9	8		Mild	I			-	Centre B30 (unpublished)
17	-	-			-		United Kingdom	-	Green et al (1992)
18	-	-		Moderate	-		Italy	-	Belvini et al (2005)
19	-	-			-		United Kingdom	-	Winship and Dragon (1991)
20	5	10		Moderate	II		United Kingdom	-	Green et al (1992)
21	6	6		Mild	I		USA	-	Koeberl et al (1990)
22	5	8		Moderate	II		USA	-	Koeberl et al (1990)
23	3	8		Moderate	II		USA	-	Thompson and Chen (1992)
24	4	10		Moderate	II		USA	-	Thompson and Chen (1992)
25	7	-		Mild	-		USA	-	Ketterling et al (1991)
26	2	11		Moderate	II		USA	-	Thompson et al (1992)
27	5	17		Moderate	II		USA	-	Thompson et al (1992)
28	15	-		Mild	-		USA	-	Ketterling et al (1991)
29	2	-		Moderate	-		USA	-	Ketterling et al (1991)
30	2	-		Moderate	-		USA	-	Ketterling et al (1991)
31	4	4		Moderate	I		USA	-	Ketterling et al (1991)
32	2	-		Moderate	-		United Kingdom	-	Giannelli et al (1993)
33	8	-		Mild	-		Germany	-	Knobloch et al (1993)
34	2	5		Moderate	II		USA	-	Thompson and Chen (1992)
35	-	6			-		USA	-	Thompson and Chen (1992)
36	2	7		Moderate	II		USA	-	Thompson and Chen (1992)
37	2	3		Moderate	II		Canada	-	Fraser et al (1992)
38	5	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
39	15	-		Mild	-		United Kingdom	-	Saad et al (1994)
40	8	-		Mild	-		United Kingdom	-	Saad et al (1994)
41	7	-		Mild	-		Sweden	-	Ljung et al (2001)
42	9	9		Mild	I		France	-	Tartary et al (1993)
43	8	7		Mild	I		France	-	Tartary et al (1993)
44	5	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
45	4	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
46	10	-		Mild	-		Denmark	-	Nielsen et al (1992)
47	-	-		Moderate	-		Germany	-	Wulff et al (1995)
48	4	13	Familial	Moderate	II		USA	-	Chen et al (1995)
49	-	-		Mild	-		USA	-	Bottema et al (1993)
50	6	9		Mild	II		USA	-	Bottema et al (1993)
51	3	5.5		Moderate	II		USA	-	Bottema et al (1993)
52	7	6		Mild	I		USA	-	Bottema et al (1993)
53	-	-		Mild	-		USA	-	Bottema et al (1993)
54	3.5	4.4		Moderate	I		USA	-	Bottema et al (1993)
55	9	12		Mild	I		USA	-	Bottema et al (1993)
56	5	7		Moderate	I		USA	-	Bottema et al (1993)
57	3	7.8		Moderate	II		USA	-	Bottema et al (1993)
58	2.9	7.5		Moderate	II		USA	-	Bottema et al (1993)
59	5	-		Moderate	-		United Kingdom	-	Saad et al (1994)
60	-	-			-			-	Centre B31 (unpublished)
61	2.5	-		Moderate	-			-	Centre B31 (unpublished)
62	7	-		Mild	-		United Kingdom	-	Saad et al (1994)
63	6	-		Mild	-			-	Centre B31 (unpublished)
64	9	-		Mild	-			-	Centre B38 (unpublished)
65	3	-		Moderate	-		USA	-	Thorland et al (1995)
66	7	-		Mild	-		United Kingdom	-	Rowley et al (1995)
67	2	-		Moderate	-		USA	-	Thorland et al (1995)
68	4	-		Moderate	-		United Kingdom	-	Rowley et al (1995)
69	8	-		Mild	-			-	Centre B1 (unpublished)
70	-	-			-		United Kingdom	-	Rowley et al (1995)
71	16	-		Mild	-		United Kingdom	-	Rowley et al (1995)
72	3	-		Moderate	-		USA	-	Thorland et al (1995)
73	4	-		Moderate	-		Brazil	-	Pestana et al (1991)
74	2	-		Moderate	-			-	Centre B1 (unpublished)
75	3	-		Moderate	-		Brazil	-	Pestana et al (1991)
76	2	-		Moderate	-		United Kingdom	-	Rowley et al (1995)
77	4	-		Moderate	-		United Kingdom	-	Rowley et al (1995)
78	-	-			-		United Kingdom	-	Rowley et al (1995)
79	-	-			-		United Kingdom	-	Rowley et al (1995)
80	<1	-		Severe	-		France	-	Costa et al (2000)
81	6	9		Mild	II		Germany	-	Wulff et al (1999)
82	-	4			-		USA	-	Weinmann et al (1998)
83	2	10		Moderate	II		France	-	Costa et al (2000)
84	7	11		Mild	II		USA	-	Weinmann et al (1998)
85	4	-		Moderate	-		Brazil	-	Pestana et al (1991)
86	3	-		Moderate	-		Brazil	-	Pestana et al (1991)
87	3	-		Moderate	-		USA	-	Weinmann et al (1998)
88	-	-			-			-	Centre B10 (unpublished)
89	12	-		Mild	-		Spain	-	Montejo et al (1999)
90	15	10		Mild	I			-	Centre B14 (unpublished)
91	-	-			-		Germany	-	Wulff et al (1998)
92	<1	-		Severe	-		France	-	Costa et al (2000)
93	5	-		Moderate	-		Germany	-	Wulff et al (1998)
94	11	-		Mild	-		Turkey	-	Caglayan et al (1997)
95	-	-			-		Spain	-	Montejo et al (1999)
96	-	-			-		Germany	-	Wulff and Herrmann (1999)
97	-	-			-		Germany	-	Wulff and Herrmann (1999)
98	-	-			-		USA	-	Thompson et al (1990)
99	12	-		Mild	-		USA	-	Thompson et al (1990)
100	3	8		Moderate	II			-	Centre B39 (unpublished)
101	3	8		Moderate	II			-	Centre B39 (unpublished)
102	<1	-		Severe	-		USA	-	Li et al (2000)
103	2	-		Moderate	-			-	Centre B39 (unpublished)
104	-	-			-		Germany	-	Wulff et al (1998)
105	4 to 12	-		Mild	-		Germany	-	Wulff et al (1998)
106	2	-		Moderate	-			-	Centre B10 (unpublished)
107	-	-			-		Germany	-	Wulff and Herrmann (1999)
108	2	-		Moderate	-			-	Centre B37 (unpublished)
109	<1	-		Severe	-			-	Centre B37 (unpublished)
110	-	-			-			-	Centre B22 (unpublished)
111	11	5		Mild	I			-	Centre B39 (unpublished)
112	4	-		Moderate	-			-	Centre B26 (unpublished)
113	-	8			-			-	Centre B39 (unpublished)
114	-	-			-		Germany	-	Wulff et al (1998)
115	-	-			-		Germany	-	Wulff et al (1998)
116	-	-			-		Germany	-	Wulff et al (1998)
117	-	-			-		Germany	-	Wulff et al (1998)
118	-	-			-		Germany	-	Wulff et al (1998)
119	3	-		Moderate	-			-	Centre B14 (unpublished)
120	-	-			-			-	Centre B21 (unpublished)
121	5	-		Moderate	-			-	Centre B39 (unpublished)
122	3	-		Moderate	-			-	Centre B39 (unpublished)
123	-	-		Mild	-			-	Centre B39 (unpublished)
124	-	-			-			-	Centre B39 (unpublished)
125	-	-			-		India	-	Mukherjee et al (2004)
126	3	-	Familial	Moderate	-	NO	Argentina	-	Radic et al (2013)
127	-	-		Moderate	-	NO	USA	-	Miller et al (2012)
128	-	-		Mild	-	NO	USA	-	Miller et al (2012)
129	-	-		Severe	-		Saudi Arabia	-	Al-Allaf et al (2017)
130	-	-		Mild	-	NO	Spain	-	Arias-Moreno et al (2013)
131	4	-		Moderate	-		Sweden	-	Halldén et al (2013)
132	7	-		Mild	-		Sweden	-	Halldén et al (2013)
133	-	-		Mild	-		Belgium	-	Lannoy et al (2017)
134	-	-			-		USA	Mod/Mild	Li et al (2014)
135	-	-			-		USA	Mod/Mild	Li et al (2014)
136	-	-			-		USA	Mod/Mild	Li et al (2014)
137	-	-			-		USA	Mod/Mild	Li et al (2014)
138	-	-			-		USA	Mod/Mild	Li et al (2014)
139	-	-			-		USA	Mod/Mild	Li et al (2014)
140	-	-			-		USA	Mod/Mild	Li et al (2014)
141	-	-			-		USA	Mod/Mild	Li et al (2014)
142	-	-			-		USA	Mod/Mild	Li et al (2014)
143	-	-			-		USA	Mod/Mild	Li et al (2014)
144	-	-			-		USA	Mod/Mild	Li et al (2014)
145	-	-			-		USA	Mod/Mild	Li et al (2014)
146	-	-			-		USA	Mod/Mild	Li et al (2014)
147	-	-			-		USA	Mod/Mild	Li et al (2014)
148	-	-			-		USA	Mod/Mild	Li et al (2014)
149	-	-			-		USA	Mod/Mild	Li et al (2014)
150	-	-			-		USA	Mod/Mild	Li et al (2014)
151	-	-			-		USA	Mod/Mild	Li et al (2014)
152	-	-			-		USA	Mod/Mild	Li et al (2014)
153	-	-			-		USA	Mod/Mild	Li et al (2014)
154	-	-			-		USA	Mod/Mild	Li et al (2014)
155	-	-			-		USA	Mod/Mild	Li et al (2014)
156	-	-			-		USA	Mod/Mild	Li et al (2014)
157	-	-			-		USA	Mod/Mild	Li et al (2014)
158	-	-			-		USA	Mod/Mild	Li et al (2014)
159	-	-			-		USA	Mod/Mild	Li et al (2014)
160	-	-			-		USA	Mod/Mild	Li et al (2014)
161	-	-			-		USA	Mod/Mild	Li et al (2014)
162	-	-			-		USA	Mod/Mild	Li et al (2014)
163	-	-			-		USA	Mod/Mild	Li et al (2014)
164	-	-			-		USA	Mod/Mild	Li et al (2014)
165	-	-			-		USA	Mod/Mild	Li et al (2014)
166	-	-			-		USA	Mod/Mild	Li et al (2014)
167	-	-			-		USA	Mod/Mild	Li et al (2014)
168	-	-			-		USA	Mod/Mild	Li et al (2014)
169	-	-			-		USA	Mod/Mild	Li et al (2014)
170	-	-			-		USA	Mod/Mild	Li et al (2014)
171	-	-			-		USA	Mod/Mild	Li et al (2014)
172	-	-		Moderate	-		Brazil	-	Meireles et al (2017)
173	-	-		Moderate	-		Brazil	-	Meireles et al (2017)
174	4	-		Moderate	-		Russia	-	Surin et al (2016)
175	<1	-		Severe	-	NO	China	-	Zhou et al (2015)

c.1025C>G

p.Thr342Arg (296)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

31008

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	-	-			-		USA	-	Johnsen et al (2017)
2	2.7	-		Moderate	-		China	-	Lu et al (2015)

c.1026G>A

p.Thr342Thr (296)

Mutation Type:

Polymorphism

Domain:

Serine Protease

Nucleotide number:

31009

Mutation Effect:

Silent

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 (Polymorphism | Silent) of mutation at Exon 8.

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: 8 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

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR