Factor IX Variant Database

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Search Results: 6 unique variants retrieved

c.718T>A

p.Trp240Arg (194)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

20560

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	1		Severe	-		USA	-	Thompson et al (1992)

c.718T>C

p.Trp240Arg (194)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

20560

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	4	4		Moderate	I		USA	-	Thompson et al (1992)

c.719G>A

p.Trp240* (194)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

20561

Mutation Effect:

Nonsense

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 (Point | Nonsense) of mutation at Exon 6.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-		-		United Kingdom	-	Saad et al (1994)
2	-	-		-		Denmark	-	Nielsen et al (1995)
3	3	7.8	Moderate	II		USA	-	Gostout et al (1993)
4	<1	<1	Severe	-		Sweden	-	Ljung et al (2001)
5	5	-	Moderate	-		Germany	-	Wulff et al (1998)
6	<1	<0.1	Severe	-	YES	United Kingdom	-	Green et al (1989)
7	<1	-	Severe	-		India	-	Mukherjee et al (2004)
8	<1	-	Severe	-		Sweden	-	Halldén et al (2013)
9	<1	-	Severe	-		Sweden	-	Halldén et al (2013)
10	-	-		-		China	-	Huang et al (2020)

c.719G>T

p.Trp240Leu (194)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

20561

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1	-		Severe	-			-	Centre B13 (unpublished)
2	1	-		Moderate	-			-	Centre B25 (unpublished)
3	-	-	Sporadic	Moderate	-	NO	China	-	Yu et al (2012)
4	-	-		Moderate	-	NO	China	-	Yu et al (2012)

c.720G>A

p.Trp240* (194)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

20562

Mutation Effect:

Nonsense

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 (Point | Nonsense) of mutation at Exon 6.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	-		Severe	-		United Kingdom	-	Saad et al (1994)
2	<1	-		Severe	-			-	Centre B31 (unpublished)
3	-	-			-			-	Centre B9 (unpublished)
4	-	-		Severe	-	YES	Italy	-	Belvini et al (2005)
5	-	-	Familial	Severe	-		Ireland	-	Jenkins et al (2008)
6	<1	-		Severe	-	YES		-	Centre B37 (unpublished)
7	0.5	-		Severe	-			-	Centre B37 (unpublished)
8	<1	2		Severe	II		United Kingdom	-	Saad et al (1994)
9	-	-		Severe	-	YES	Italy	-	Belvini et al (2005)
10	-	-			-			-	Centre B9 (unpublished)
11	<1	-	Sporadic	Severe	-	YES	Argentina	-	Radic et al (2013)

c.720G>T

p.Trp240Cys (194)

Mutation Type:

Point

Domain:

Serine Protease

Nucleotide number:

20562

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	-		India	-	Jayandharan et al (2005)
2	6	-	Mild	-		USA	-	Ketterling et al (1999)
3	<1	<1	Severe	-		USA	-	Thompson et al (1992)
4	3	-	Moderate	-			-	Centre B37 (unpublished)
5	<1	-	Severe	-	NO	India	-	Jayandharan et al (2009)

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