EAHAD Factor VIII Variant Database

Data Display Options:

UNIQUE (Without Case Data) :

EXCEL/CSV

SCREEN TABLE

MULTIPLE (With Case Data) :

EXCEL/CSV

SCREEN TABLE

Search Results: 4 unique variants retrieved

c.6682C>T

p.(Arg2228*) (Legacy AA No.2209)

Variant Type:

Point

Domain:

Sequence Context:

CGA > TGA

Variant Effect:

Nonsense

Location:

Exon 24

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 24

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
4529				Severe			Centre A26 (unpublished)
4530				Severe			Centre A26 (unpublished)
4531				Severe			Centre A26 (unpublished)
4532	<1			Severe	related; family 1; 2 brothers	Yes	Astermark et al (2005)	Sweden
4533	<1			Severe	related; family 1; 2 brothers	Yes	Astermark et al (2005)	Sweden
4534	<1			Severe	related; family 2; 2 brothers	Yes	Astermark et al (2005)	Sweden
4535	<1			Severe	related; family 2; 2 brothers	Yes	Astermark et al (2005)	Sweden
4536	<1			Severe	related; family 3; 2 brothers	No	Astermark et al (2005)	Sweden
4537	<1			Severe	related; family 3; 2 brothers	Yes	Astermark et al (2005)	Sweden
4538				Severe			Becker et al (1996)	Germany
4539				Severe			Becker et al (1996)	Germany
4540	<1	<1.5		Severe		No	Casana et al (2008)	Spain
4541	<1			Severe		No	Casana et al (2008)	Spain
4542	<1			Severe		Yes	Coppola et al (2009)	Italy
4543	<1			Severe		Yes	David et al (2006)	Portugal
4544	1 to 4			Severe		Yes	Fidanci et al (2008)	Turkey
4545	<1			Severe		Yes	Gitschier et al (1985)	United States
4546	<1			Severe			Green et al (2008)	United Kingdom
4547	<1			Severe		Yes	Higuchi et al (1989)	Germany
4548	<1			Severe		Yes	Higuchi et al (1989)	Germany
4549	<1			Severe			Centre A5 (unpublished)
4550	4	7	II	Moderate		No	Laurie et al (2007)	New Zealand
4551	<1			Severe		Yes	Lavergne et al (1992)	France
4552				Severe			Leuer et al (2001)	Germany
4553				Severe			Leuer et al (2001)	Germany
4554	1			Moderate			Liu et al (1997)	China
4555	1			Moderate			Liu et al (1997)	China
4556	<1			Severe		No	Ljung et al (1999)	Sweden
4557	<1			Severe		No	Reiner et al (1992b)	United States
4558				Severe	unrelated	Yes	Salviato et al (2007)	Italy
4559				Severe	unrelated	Yes	Salviato et al (2007)	Italy
4560				Severe	unrelated	Yes	Salviato et al (2007)	Italy
4561				Severe		No	Schwaab et al (1993)	Germany
4562				Severe		No	Schwaab et al (1993)	Germany
4563				Severe		No	Schwaab et al (1993)	Germany
4564				Severe		Yes	Schwaab et al (1995b)	Germany
4565				Severe		Yes	Schwaab et al (1995b)	Germany
4566	<1			Severe		Yes	Vinciguerra et al (2006)	France
4567	<1			Severe		No	Waseem et al (1999)	United Kingdom
4568	<1			Severe		Yes	Youssoufian et al (1988a)	United States
4569	<1			Severe		Yes	Youssoufian et al (1988a)	United States
7918	<1			Severe			Johnsen et al (2017)	United States
7919	<1			Severe		Yes	Johnsen et al (2017)	United States
7920	<1			Severe		Yes	Johnsen et al (2017)	United States
7921	<1			Severe			Johnsen et al (2017)	United States
7922	<1			Severe		No	Johnsen et al (2017)	United States
7923	<1			Severe		Yes	Johnsen et al (2017)	United States
7924	<1			Severe		Yes	Johnsen et al (2017)	United States
7925	<1			Severe		Yes	Johnsen et al (2017)	United States
7926	<1			Severe		No	Johnsen et al (2017)	United States
7927	<1			Severe		Yes	Johnsen et al (2017)	United States
9592				Severe		No	Margaglione et al (2008)	Italy
9593				Severe		No	Margaglione et al (2008)	Italy
9726	< 1			Severe		No	Guillet et al (2006)	France
9727	< 1			Severe		No	Guillet et al (2006)	France
9728	< 1			Severe		No	Guillet et al (2006)	France
9729	< 1			Severe		Yes	Guillet et al (2006)	France

c.6682C>G

p.(Arg2228Gly) (Legacy AA No.2209)

Variant Type:

Point

Domain:

Sequence Context:

CGA > GGA

Variant Effect:

Missense

Location:

Exon 24

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	Severity	Inhibitors	Reference	Reporting Centre
4527	<1	Severe	No	Figueiredo et al (1994)	Brazil
4528	<1 to 2		No	Habart et al (2003)	Czech Republic
10177	<1	Severe	No	Gouw et al (2011)	Netherlands

c.6683G>A

p.(Arg2228Gln) (Legacy AA No.2209)

Variant Type:

Point

Domain:

Sequence Context:

CGA > CAA

Variant Effect:

Missense

Location:

Exon 24

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
4570	3			Moderate			Abdul-Ghafar et al (2010)	Singapore
4571	3			Moderate			Centre A26 (unpublished)
4572	<1			Severe			Bernardi et al (1988)	Italy
4573	<1			Severe		No	Bernardi et al (1988)	Italy
4574	<1			Severe		No	Casula et al (1990)	Italy
4575				Severe			Colvin et al (conference abstract)	United Kingdom
4576	<1			Severe		No	Green et al (2008)	United Kingdom
4577	<1	4		Severe		No	Higuchi et al (1991b)	United States
4578	<1			Severe			Hwang et al (2009)	South Korea
4579	3			Moderate		No	Inaba et al (1989)	United States
4580	<1	1		Severe		No	Ivaskevicius et al (2001)	Lithuania
4581	<1			Severe		No	Lavergne et al (1992)	France
4582	2 to 5			Moderate		No	Levinson et al (1990)	United States
4583	2 to 5			Moderate		No	Levinson et al (1990)	United States
4584	<1			Severe		No	Centre A10 (unpublished)
4585	2			Severe		No	Centre A10 (unpublished)
4586	2			Severe		No	Centre A10 (unpublished)
4587	1 to 4			Moderate		No	Centre A10 (unpublished)
4588				Severe			Centre A10 (unpublished)
4589	<1			Severe			Lin et al (2008)	Taiwan
4590	<1	<1		Severe	related	No	Nair et al (2010)	India
4591	<1	<1		Severe	related	No	Nair et al (2010)	India
4592				Severe		No	Rossetti et al (2007)	Argentina
4593	<1			Severe		No	Schwaab et al (1990)	Germany
4594	7	130	II	Moderate		Yes	Schwaab et al (1990)	Germany
4595	7	130	II	Mild		Yes	Schwaab et al (1993)	Germany
4596	<1			Severe		No	Schwaab et al (1993)	Germany
4597	3			Moderate		No	Strmecki et al (1999)	Slovenia
4598	1			Moderate		No	Strmecki et al (1999)	Slovenia
4599	<1			Severe		Yes	Tagariello et al (2000)	Italy
4600	4			Moderate		No	Theophilus et al (2001)	United Kingdom
4601				Severe		No	Traystman et al (1990)	United States
4602	<1			Severe		No	Youssoufian et al (1988a)	United States
4603	<1			Severe		No	Youssoufian et al (1988a)	United States
4604	<2			Severe		No	Goodeve et al (2000)	United Kingdom
4605				Mild		No	Bogdanova et al (2007)	Germany
4606	3	3	I	Moderate		No	Millar et al (1991)	United Kingdom
7928	<1			Severe		No	Johnsen et al (2017)	United States
7929	2			Moderate		No	Johnsen et al (2017)	United States
7930	2			Moderate		No	Johnsen et al (2017)	United States
7931	<1			Severe		No	Johnsen et al (2017)	United States
7932	<1			Severe			Johnsen et al (2017)	United States
7933	<1			Severe		Yes	Johnsen et al (2017)	United States
7934	<1			Severe		No	Johnsen et al (2017)	United States
7935	<1			Severe			Johnsen et al (2017)	United States
7936	2			Moderate		No	Johnsen et al (2017)	United States
7937	<1			Severe		No	Johnsen et al (2017)	United States
7938	3			Moderate		Yes	Johnsen et al (2017)	United States
9174				Moderate		No	Boekhorst et al (2005)	Netherlands
9594				Severe		No	Margaglione et al (2008)	Italy
9595				Severe		No	Margaglione et al (2008)	Italy
9596				Severe		No	Margaglione et al (2008)	Italy
9597				Severe		No	Margaglione et al (2008)	Italy
9598				Severe			Margaglione et al (2008)	Italy
10178	<1			Severe		Yes	Gouw et al (2011)	Netherlands
10179	<1			Severe		No	Gouw et al (2011)	Netherlands
10324				Severe			Lannoy et al (2012)	Belgium

c.6683G>T

p.(Arg2228Leu) (Legacy AA No.2209)

Variant Type:

Point

Domain:

Sequence Context:

CGA > CTA

Variant Effect:

Missense

Location:

Exon 24

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Data Display Options:

UNIQUE (Without Case Data) : EXCEL/CSV SCREEN TABLE MULTIPLE (With Case Data) : EXCEL/CSV SCREEN TABLE

Search Results: 4 unique variants retrieved

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

UNIQUE (Without Case Data) :

EXCEL/CSV

SCREEN TABLE

MULTIPLE (With Case Data) :

EXCEL/CSV

SCREEN TABLE