Factor IX Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

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Search Results: 5 unique variants retrieved

c.127C>T

p.Arg43Trp (-4)

Mutation Type:

Point

Domain:

Pro-Peptide

Nucleotide number:

6364

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

c.127delC

p.Arg43Glyfs*61 (-4)

Mutation Type:

Deletion

Domain:

Pro-Peptide

Nucleotide number:

6364

Mutation Effect:

Frameshift

Location:

Exon(2)

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 2.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	-		Severe	-		India	-	Jayandharan et al (2003)

c.128G>A

p.Arg43Gln (-4)

Mutation Type:

Point

Domain:

Pro-Peptide

Nucleotide number:

6365

Mutation Effect:

Missense

Location:

Exon(2)

CpG:

No. of patients reported:

103

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	-	-		Severe	-		Italy	-	Belvini et al (2005)
2	<1	98		Severe	II		USA	-	Ware et al (1989)
3	<1	-		Severe	-		USA	-	Bottema et al (1993)
4	<1	-		Severe	-		Germany	-	Knobloch et al (1993)
5	4	93		Moderate	II		China	Patient tested at Hong Kong	Chan et al (1991)
6	1	82		Moderate	II		China	Patient tested at Hong Kong	Chan et al (1991)
7	<1	46		Severe	II		Japan	-	Sugimoto et al (1989)
8	<1	-		Severe	-		Germany	-	Knobloch et al (1993)
9	<1	40		Severe	II			-	Centre B8 (unpublished)
10	4	80		Moderate	II		United Kingdom	-	Liddell et al (1989)
11	1	48		Moderate	II		United Kingdom	-	Green et al (1989)
12	<1	15 to 53		Severe	II		Italy	-	Bicocchi et al (2006)
13	1	45		Moderate	II		United Kingdom	-	Green et al (1989)
14	-	-			-		France	-	Ghanem et al (1993)
15	<1	38		Severe	II		Taiwan	-	Lin et al (1991)
16	2	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
17	2	40		Moderate	II		USA	-	Thompson et al (1992)
18	-	-			-		USA	-	Thompson et al (1992)
19	<1	-	Familial	Severe	-		India	-	Jayandharan et al (2005)
20	<1	65		Severe	II		USA	-	Thompson et al (1992)
21	<1	41		Severe	II		USA	-	Thompson et al (1992)
22	<1	37		Severe	II		USA	-	Bottema et al (1991)
23	<1	49		Severe	II		United Kingdom	-	Giannelli et al (1993)
24	2	15		Moderate	II		Canada	-	Fraser et al (1992)
25	<1	55		Severe	II		Taiwan	-	Lin et al (1993)
26	-	-			-		United Kingdom	-	Saad et al (1994)
27	<1	-		Severe	-		United Kingdom	-	Saad et al (1994)
28	-	-			-		United Kingdom	-	Saad et al (1994)
29	2	-		Moderate	-		United Kingdom	-	Saad et al (1994)
30	<1	-		Severe	-		France	-	Ghanem et al (1993)
31	<1	-		Severe	-			-	Centre B6 (unpublished)
32	18	-		Mild	-		France	-	Tartary et al (1993)
33	3	38		Moderate	II		USA	-	Bottema et al (1993)
34	1	26		Moderate	II		USA	-	Gostout et al (1993)
35	-	-		Severe	-		USA	-	Bottema et al (1993)
36	2.6	49		Moderate	II		USA	-	Gostout et al (1993)
37	<1	-		Severe	-		United Kingdom	-	Saad et al (1994)
38	-	-			-		United Kingdom	-	Bowen et al (1993)
39	2	-		Moderate	-		USA	-	Thorland et al (1995)
40	<1	55		Severe	II			-	Centre B31 (unpublished)
41	3	-		Moderate	-			-	Centre B3 (unpublished)
42	4	-		Moderate	-			-	Centre B31 (unpublished)
43	<1	-		Severe	-			-	Centre B31 (unpublished)
44	<1	40 to 57		Severe	II			-	Centre B31 (unpublished)
45	<1	52		Severe	II		Germany	-	Wulff et al (1998)
46	<1	48		Severe	II		Germany	-	Wulff et al (1999)
47	-	-			-			-	Centre B31 (unpublished)
48	1	-		Moderate	-			-	Centre B14 (unpublished)
49	<1	-		Severe	-		France	-	Costa et al (2000)
50	<1	-		Severe	-		USA	-	Heit et al (1998)
51	<1	37		Severe	II			-	Centre B39 (unpublished)
52	<1	-		Severe	-		Spain	-	Montejo et al (1999)
53	<1	52		Severe	II		Germany	-	Wulff et al (1999)
54	3	-		Moderate	-		Spain	-	Montejo et al (1999)
55	<1	-		Severe	-			-	Centre B14 (unpublished)
56	<1	44		Severe	II		France	-	Attali et al (1999)
57	<1	-		Severe	-		USA	-	Koeberl et al (1990)
58	-	-			-		China	-	Liu et al (2000)
59	-	-			-		China	-	Liu et al (2000)
60	-	-			-		China	-	Liu et al (2000)
61	-	-			-		China	-	Liu et al (2000)
62	2	-		Moderate	-			-	Centre B21 (unpublished)
63	-	-			-		Germany	-	Wulff et al (1998)
64	<1	-		Severe	-			-	Centre B37 (unpublished)
65	1	-		Moderate	-			-	Centre B37 (unpublished)
66	<1	12		Severe	II			-	Centre B39 (unpublished)
67	-	-			-			-	Centre B37 (unpublished)
68	<1	-		Severe	-			-	Centre B26 (unpublished)
69	-	-			-			-	Centre B21 (unpublished)
70	<1	37		Severe	II			-	Centre B39 (unpublished)
71	<1	-		Severe	-			-	Centre B5 (unpublished)
72	<1	-		Severe	-		United Kingdom	-	Enayat et al (2004)
73	1.8	-		Moderate	-		United Kingdom	-	Enayat et al (2004)
74	2	-		Moderate	-		Turkey	-	Onay et al (2003)
75	<1	-	Familial	Severe	-		Jordan	-	Awidi et al (2011)
76	<1	-		Severe	-		Tunisia	-	Elmahmoudi et al (2011)
77	<1	89		Severe	II		United Kingdom	-	Bentley et al (1986)
78	<1	-		Severe	-	NO	Malaysia	-	Balraj et al (2012)
79	<1	-	Familial	Severe	-	NO	Argentina	-	Radic et al (2013)
80	-	-	Sporadic	Severe	-	NO	China	-	Yu et al (2012)
81	-	-	Sporadic	Severe	-	NO	China	-	Yu et al (2012)
82	-	-		Moderate	-	NO	China	-	Yu et al (2012)
83	-	-		Mild	-	NO	China	-	Yu et al (2012)
84	-	-		Mild	-	NO	China	-	Yu et al (2012)
85	-	-		Severe	-	NO	USA	-	Miller et al (2012)
86	-	-		Mild	-		China	-	Cao et al (2014)
87	-	-			-		China	-	Huang et al (2020)
88	-	-			-		China	-	Huang et al (2020)
89	-	-			-		China	-	Huang et al (2020)
90	-	-		Moderate	-		USA	-	Li et al (2014)
91	-	-		Severe	-		USA	-	Li et al (2014)
92	1.5	-		Moderate	-		China	-	Lu et al (2015)
93	2.1	-		Moderate	-		China	-	Lu et al (2015)
94	-	-		Severe	-		Brazil	-	Meireles et al (2017)
95	-	-		Severe	-		Brazil	-	Meireles et al (2017)
96	-	-		Severe	-		Brazil	-	Meireles et al (2017)
97	2.64	-		Moderate	-		Russia	-	Surin et al (2016)
98	3.9	-		Moderate	-		Russia	-	Surin et al (2016)
99	1-4	-		Moderate	-		Russia	-	Surin et al (2016)
100	1	-		Severe	-		China	-	Wang et al (2013)
101	-	-		Severe	-		Malaysia	Malay	Zahari et al (2018)
102	-	-		Moderate	-		Malaysia	Malay	Zahari et al (2018)
103	-	-			-		Italy	-	Branchini et al (2022)

c.128G>T

p.Arg43Leu (-4)

Mutation Type:

Point

Domain:

Pro-Peptide

Nucleotide number:

6365

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	Country	Comments	Reference
1	<1	-	Severe	-	Germany	-	Knobloch et al (1993)
2	<1	45	Severe	II	Germany	-	Knobloch et al (1993)
3	<1	49	Severe	II	Germany	-	Knobloch et al (1993)
4	<1	27	Severe	II	USA	-	Koeberl et al (1990)
5	2	52	Moderate	II	France	-	Ghanem et al (1993)
6	3	-	Moderate	-	France	-	Ghanem et al (1993)
7	<1	-	Severe	-	Germany	-	Wulff et al (1995)
8	<1	-	Severe	-	Germany	-	Wulff et al (1995)
9	3	-	Moderate	-		-	Centre B3 (unpublished)
10	<1	-	Severe	-	South Korea	-	Kwon et al (2008)
11	<1	-	Severe	-	South Korea	-	Kwon et al (2008)
12	<1	-	Severe	-	Germany	-	Wulff et al (1998)
13	-	-		-	Germany	-	Wulff et al (1998)
14	-	-		-	Germany	-	Wulff et al (1998)
15	-	-		-	Germany	-	Wulff et al (1998)
16	-	-		-		-	Centre B21 (unpublished)
17	-	-	Severe	-	Brazil	-	Meireles et al (2017)
18	1	-	Severe	-	China	-	Wang et al (2013)

c.129G>A

p.Arg43Arg (-3)

Mutation Type:

Polymorphism

Domain:

Pro-peptide

Nucleotide number:

6366

Mutation Effect:

Silent

Location:

Exon(2)

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 2.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			ClinVar	Landrum et al (2018)

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: 5 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

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR