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.316G>A

p.Gly106Ser (60)

Mutation Type:

Point

Domain:

EGF1

Nucleotide number:

10430

Mutation Effect:

Missense

Location:

Exon(4)

CpG:

No. of patients reported:

105

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	14	-		Mild	-		USA	-	Denton et al (1988)
2	10	11		Mild	I		USA	-	Koeberl et al (1990)
3	13	34		Mild	II			-	Centre B27 (unpublished)
4	12	31		Mild	II		Netherlands	-	Poort et al (1989)
5	17	22		Mild	I			-	Centre B27 (unpublished)
6	10	-		Mild	-		United Kingdom	-	Green et al (1990)
7	11	19		Mild	II		USA	-	Chen et al (1989b)
8	10	18		Mild	II		USA	-	Chen et al (1991a)
9	17	30		Mild	II		USA	-	Chen et al (1989b)
10	15	54		Mild	II		USA	-	Chen et al (1991b)
11	10	28		Mild	II		United Kingdom	-	Winship and Dragon (1991)
12	14	35		Mild	II		USA	-	Koeberl et al (1989)
13	16	41		Mild	II		USA	-	Koeberl et al (1989)
14	13	30		Mild	II		USA	-	Thompson and Chen (1992)
15	17	-		Mild	-		USA	-	Ketterling et al (1991)
16	12	32		Mild	II		USA	-	Ketterling et al (1991)
17	5	-		Moderate	-		USA	-	Ketterling et al (1991)
18	10	-		Mild	-		USA	-	Ketterling et al (1991)
19	15	-		Mild	-		USA	-	Ketterling et al (1991)
20	22	23		Mild	I		USA	-	Ketterling et al (1991)
21	9	20		Mild	II		USA	-	Ketterling et al (1991)
22	15	20		Mild	I		USA	-	Ketterling et al (1991)
23	16	-		Mild	-		USA	-	Ketterling et al (1991)
24	9	-		Mild	-		USA	-	Ketterling et al (1991)
25	11	31		Mild	II		USA	-	Thompson et al (1992)
26	15	30		Mild	II		USA	-	Thompson et al (1992)
27	11	19		Mild	II		USA	-	Chen et al (1989b)
28	9	31		Mild	II		Canada	-	Fraser et al (1992)
29	13	30		Mild	II		Canada	-	Fraser et al (1992)
30	17	21		Mild	I		France	-	Tartary et al (1993)
31	25	32		Mild	I		USA	-	Bottema et al (1993)
32	7	33		Mild	II		USA	-	Bottema et al (1993)
33	7	23.5		Mild	II		USA	-	Bottema et al (1993)
34	8	26		Mild	II		USA	-	Bottema et al (1993)
35	6	-		Mild	-		United Kingdom	-	Saad et al (1994)
36	9	-		Mild	-		United Kingdom	-	Saad et al (1994)
37	17	-		Mild	-		United Kingdom	-	Saad et al (1994)
38	13	-		Mild	-		United Kingdom	-	Saad et al (1994)
39	31	-		Mild	-			-	Centre B31 (unpublished)
40	-	-			-			-	Centre B31 (unpublished)
41	76	72		Mild	I			-	Centre B31 (unpublished)
42	36	-		Mild	-			-	Centre B31 (unpublished)
43	8	-		Mild	-			-	Centre B31 (unpublished)
44	14	-		Mild	-			-	Centre B31 (unpublished)
45	20	-		Mild	-			-	Centre B31 (unpublished)
46	-	-			-			-	Centre B31 (unpublished)
47	8	-		Mild	-		USA	-	Thorland et al (1995)
48	7	-		Mild	-			-	Centre B31 (unpublished)
49	21	-		Mild	-			-	Centre B31 (unpublished)
50	-	-			-			-	Centre B31 (unpublished)
51	-	-			-		USA	-	Weinmann et al (1998)
52	17	21		Mild	I			-	Centre B21 (unpublished)
53	6	-		Mild	-		USA	-	Weinmann et al (1998)
54	12	-		Mild	-			-	Centre B31 (unpublished)
55	11	-		Mild	-			-	Centre B14 (unpublished)
56	-	-			-		USA	-	Heit et al (1998)
57	10	27		Mild	II			-	Centre B39 (unpublished)
58	6	28		Mild	II			-	Centre B39 (unpublished)
59	10	10		Mild	I			-	Centre B14 (unpublished)
60	20	-		Mild	-			-	Centre B26 (unpublished)
61	<1	-		Severe	-			-	Centre B37 (unpublished)
62	-	-			-			-	Centre B39 (unpublished)
63	11	4		Mild	I			-	Centre B39 (unpublished)
64	-	-			-		Germany	-	Wulff et al (1998)
65	15	-		Mild	-			-	Centre B37 (unpublished)
66	7	-		Mild	-			-	Centre B37 (unpublished)
67	-	-			-			-	Centre B37 (unpublished)
68	10	27		Mild	II			-	Centre B39 (unpublished)
69	-	-		Mild	-		Italy	-	Belvini et al (2005)
70	20	-		Mild	-			-	Centre B39 (unpublished)
71	-	-			-			-	Centre B31 (unpublished)
72	11	-	Sporadic	Mild	-	NO	Argentina	-	Radic et al (2013)
73	-	-		Moderate	-	NO	USA	-	Miller et al (2012)
74	-	-		Mild	-	NO	USA	-	Miller et al (2012)
75	-	-		Mild	-		Saudi Arabia	-	Al-Allaf et al (2017)
76	-	-		Mild	-	NO	Spain	-	Arias-Moreno et al (2013)
77	11	-		Mild	-		Sweden	-	Halldén et al (2013)
78	-	-		Mild	-		Belgium	-	Lannoy et al (2017)
79	-	-			-		USA	Mod/Mild	Li et al (2014)
80	-	-			-		USA	Mod/Mild	Li et al (2014)
81	-	-			-		USA	Mod/Mild	Li et al (2014)
82	-	-			-		USA	Mod/Mild	Li et al (2014)
83	-	-			-		USA	Mod/Mild	Li et al (2014)
84	-	-			-		USA	Mod/Mild	Li et al (2014)
85	-	-			-		USA	Mod/Mild	Li et al (2014)
86	-	-			-		USA	Mod/Mild	Li et al (2014)
87	-	-			-		USA	Mod/Mild	Li et al (2014)
88	-	-			-		USA	Mod/Mild	Li et al (2014)
89	-	-			-		USA	Mod/Mild	Li et al (2014)
90	-	-			-		USA	Mod/Mild	Li et al (2014)
91	-	-			-		USA	Mod/Mild	Li et al (2014)
92	-	-			-		USA	Mod/Mild	Li et al (2014)
93	-	-			-		USA	Mod/Mild	Li et al (2014)
94	-	-			-		USA	Mod/Mild	Li et al (2014)
95	-	-			-		USA	Mod/Mild	Li et al (2014)
96	-	-			-		USA	Mod/Mild	Li et al (2014)
97	-	-			-		USA	Mod/Mild	Li et al (2014)
98	-	-			-		USA	Mod/Mild	Li et al (2014)
99	-	-			-		USA	Mod/Mild	Li et al (2014)
100	-	-			-		USA	Mod/Mild	Li et al (2014)
101	-	-			-		USA	Mod/Mild	Li et al (2014)
102	-	-			-		USA	Mod/Mild	Li et al (2014)
103	-	-			-		USA	Mod/Mild	Li et al (2014)
104	-	-			-		USA	Mod/Mild	Li et al (2014)
105	11	-		Mild	-		Russia	-	Surin et al (2016)

c.316G>C

p.Gly106Arg (60)

Mutation Type:

Point

Domain:

EGF1

Nucleotide number:

10430

Mutation Effect:

Missense

Location:

Exon(4)

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	6	Severe	II		USA	-	Bottema et al (1991)
2	-	-	Severe	-	NO	USA	-	Miller et al (2012)
3	-	-	Severe	-		USA	-	Li et al (2014)
4	-	-	Severe	-		USA	-	Li et al (2014)

c.316G>T

p.Gly106Cys (60)

Mutation Type:

Point

Domain:

EGF1

Nucleotide number:

10430

Mutation Effect:

Missense

Location:

Exon(4)

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	-			-	Centre B31 (unpublished)
2	<1	-		Severe	-		Tunisia	-	Elmahmoudi et al (2011)

c.317G>A

p.Gly106Asp (60)

Mutation Type:

Point

Domain:

EGF1

Nucleotide number:

10431

Mutation Effect:

Missense

Location:

Exon(4)

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	2	Moderate	II		USA	-	Koeberl et al (1990)
2	3	-	Moderate	-		Turkey	-	Onay et al (2003)
3	-	-	Severe	-	NO	USA	-	Miller et al (2012)
4	-	-	Severe	-		USA	-	Li et al (2014)
5	-	-	Severe	-		USA	-	Li et al (2014)
6	-	-	Severe	-		USA	-	Li et al (2014)

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