Fibrinogen variants : Aa chain

Fibrinogen variants : Bb chain

Fibrinogen variants : g chain

Last update : 16/09/2008 - Release 29
Genbank access number : M64982

abnormality
Plasma protein N-19	Native protein N	Gene	Gene status	Name / Origin	Type	Haemorraghes	Thromboses	Authours
		g.773 : 4.1 kb del	compound	P1 ITALY  = F5 FLORENCE	a	Yes		Monaldini L et al. 2007
		-1138 CT		HAMAMATSU	h			Okumara N et al. 2000	A
Aa(-18) Frameshift Stop		34insC		BELGIUM A8	a			Neerman-Arbez M et al. 2000
Aa(-2)
		11kb deletion		AFIBRINOGENE GENEVE	a			Neerman-Arbez M et al. 1999
		11kb deletion		FRANCE A3	a			Neerman-Arbez M et al. 2001
		11kb deletion		FRANCE C5	a			Neerman-Arbez M et al. 2001
		11 kb deletion	compound	KINGSPORT	a			Galanakis DK et al. 2007
		11kb deletion		SWITZERLAND B7	a			Neerman-Arbez M et al. 2001
		11kb deletion		SWITZERLAND B6	a			Neerman-Arbez M et al. 2001
		11kb deletion		SWITZERLAND C3	a			Neerman-Arbez M et al. 2001
		11kb deletion		UNITED STATES B4	a			Neerman-Arbez M et al. 2000
		IVS1+1G>A		R99	a	Yes	No	Monaldini L et al. 2005
		IVS1+3 AG		FRANCE A10	a			Neerman-Arbez M et al. 2000
Aa(-1)
Aa(7)AspAsn				LILLE		No	No	Morris S et al. 1981	A
Aa(8)PheCys		TG				No	No	Mumford AD et al.2001	A
Aa(9)		g.1185de1T		FRANCE A3	a			Neerman-Arbez M et al. 2001
Aa(9)LeuPro		1182TC		MAGDEBURG		No	No	Meyer M et al. 2003
Aa(11)GluGly				MITAKA II		Yes	No	Niwa K et al. 1993
"		AG						Meyer M et al. 2000	A
Aa(12)GlyVal				ROUEN		Yes	No	Henschen A et al. 1983	L
"		GT		SAINT GERMAIN		No	No	Mathonnet F et al. 2002
Aa(13)Glystop		1193GT	compound	P1 ITALY = F5 FLORENCE	a	Yes	No	Asselta R et al. 2001
Aa(13)GlyGlu				HANNOVER XXV				Czwalinna A 2004	O
Aa(15)ValGlu		T A						Meyer M et al. 2000	A
Aa(16)ArgCys				AMSTERDAM		No	No	Henschen A et Al. 1984
"				BERGAMO		No	No	Reber P et al. 1985
"				BERN III		No	No	Furlan M et al. 1991
"				BERN V		Yes	No	Stücki B et al. 1999
"		CGTTGT		BRAUSCHWEIG		No	Yes	Meyer M et al. 2000	A
"		CGTTGT		ERFURT		No	No	Meyer M et al. 2000	A
"		CGTTGT		ERLANGEN		Yes	No	Meyer M et al. 2000	A
"		CGTTGT		ERLANGEN II		No	No	Meyer M et al. 2000	A
"		CGTTGT		ERLANGEN III		Yes	No	Meyer M et al. 2000	A
"		CGTTGT		ERLANGEN IV		No	Yes	Meyer M et al. 2000	A
"				FRANKFURT II		Yes	No	Henschen A et al. 1984
"				FRANKFURT III		Yes	No	Henschen A et al. 1984
"				FRANKFURT V		No	Yes	Haverkate F et al. 1999
"				FRANKFURT XIII		No	No	Galanakis D et al. 1993
"			compound	FREIBURG I				Czwalinna A 2004	O
"				GENEVA		No	No	Furlan M et al. 1990
"		CGTTGT		GIESSEN IV		Yes	No	Meyer M et al. 2000	A
"		CGTTGT		HANNOVER III		No	No	Meyer M et al. 2000	A
"		CGTTGT		HANNOVER VIII				Czwalinna A et al. 2001	A
"				HANNOVER XXVIII				Czwalinna A 2004	O
"		CGTTGT		HERSHEY II		No	Yes	Galanakis D K et al. 1990	L
"		CGTTGT		HERSHEY III		Yes		Flood VH et al. 2006
"				HOMBURG II		No	No	Miyashita C et al. 1985	L
"				HOMBURG III		Yes	No	Miyashita C et al. 1985	L
"		CGTTGT		JENA		No	No	Meyer M et al. 2000	A
"		1202CT		KAISERSLAUTERN III		Yes	No	Loreth RM et al. 2001
"				KAWAGUCHI		No	No	Matsuda M et al. 1986	L
"				LEDYARD		Yes	No	Lee M H et al. 1991
"		CGTTGT		LEOGAN		No	No	Galanakis D K et al. 1990	L
"				LONDON III		No	No	Lane D et al. 1987
"				LONDON VI				Lane D et al. 1987
"				METZ		Yes	No	Soria J et al. 1982	L
"		1202CT		MILANO XII		No	No	Bolliger-Stücki B et al. 2001
"		CT		NORTHSPRING			Yes 2	Galanakis D et al. 2003	A
"			heterozyg	NOVY JICIN		Yes		Kotlin R et al. 2007
"				OSAKA		No	No	Matsuda M et al. 1986	L
"				OVIADO II ou MADRID II		No	No	Lane D et al. 1987
"				SCHWARZACH		No	No	Henschen Aet al. 1983	L
"				STONY BROOK		No	No	Galanakis D et al. 1989
"				TORINO		No	No	Reber P et al. 1987
"				ZÜRICH		No	No	Henschen A et al. 1983	L
Aa(16)ArgHis				AMIENS				Soria J et al. 1987	L
"				AMIENS II				Soria J et al. 1987
"				BARCELONA II		Yes	No	Borrel M et al. 1990
"				BERGAMO III		No	No	Reber P et al. 1987
"				BERN II		No	No	Rupp C et al. 1983
"				BERN IV		No	No	Stücki B et al. 1999
"				BICÊTRE				Henschen A et al. 1983	L
"				BIRMINGHAM		Yes	No	Siebenlist K R et al. 1988
"				CHAPEL HILL II		Yes	No	Carrell N et al. 1985	L
"		CGTCAT		KAISERLAUTERN II		Yes	No	Loreth R M et al. 1997	A
"				CLERMONT-FERRAND				Soria J et al. 1985	L
"				GIESSEN		Yes	No	Alving B M et al. 1987
"				KENDAL				Lane D A et al. 1987	L
"				KIEL		No	No	Seydewitz H H et al. 1991
"		GA	compound	KINGSPORT				Galanakis DK et al. 2007
"				LEITCHFIELD				Henschen A et al. 1984	L
"				(LONDON)		No	No	Mitchell M et al. 2002	A
"				LONDON VII				Lane D et al. 1987
"				LONG BEACH				Pirkle H et al. 1987	A
"				LOUISVILLE		Yes	No	Galanakis D K et al. 1983
"		CGTCAT		LÜBECK		No	No	Meyer M et al. 2000	A
"		CGTCAT		MANCHESTER		No	No	Southan C et al. 1983
"				MILANO IV		No	No	Bögli C et al. 1992
"				MILANO VI		Yes	No	Bögli C et al. 1990
"				MILANO XI		No	No	Stücki B et al. 1999
"				NEW ALBANY		No	No	Henschen A et al. 1983	L
"		CGTCAT		NEW BRITAIN		No	No	Webb C D et al. 1994
"				OSAKA IV		No	No	Yamazumi K et al. 1993
"				PARIS VI				Southan C et al. 1987
"				PETOSKEY		No	No	Higgins D L et al. 1981
"		CGTCAT		POISSY		No	Yes 1	Mathonnet F et al.1997
"		CGTCAT		POISSY III				Mathonnet F et al. 2001
"			heterozyg	PRAHA II				Kotlin R et al. 2007
"				SAPPORO		No	No	Asakura S et al. 1989
"				SEATTLE II		No	No	Ebert R F et al. 1986
"				SHEFFIELD		Yes	No	Southan C et al. 1987
"				STONY BROOK II		Yes	No	Galanakis D K et al. 1990
"				SYDNEY		No	No	Southan C et al. 1985	L
"				SYDNEY II				Southan C et al. 1985	L
"		CGTCAT		TAHITI				Mathonnet F et al. 2001
"				WHITE MARSH				Carr M E et al. 1987
Aa(17)GlyVal				BREMEN		Yes	No	Wada Y et al. 1993
Aa(18)ProLeu				KANAZAWA		No	No	Uotani C et al. 1990
"				KYOTO II		Yes	No	Yoshida N et al. 1991
Aa(19)ArgSer				DETROIT		Yes	No	Blombäck M et al. 1968
Aa(19)ArgAsn				MUNICH		Yes	No	Henschen A et al. 1983	L
Aa(19)ArgGly				AARHUS		No	Yes	Blömback B et al. 1988	L
"				KUMAMOTO		No	Yes	Yamaguchi F I et al. 1996	A
"				MANNHEIM		Yes	No	Dempfle C E H et al. 1990	L
"		AGGGGG		MATSUMOTO V		No	No	Tanaka H et al. 2001
"		AGGGGG		MILANO XIII		Yes	No	Bolliger-Stücki B et al. 1999
"		AGGGGG		OSLO IV		No	No	Brennan S O et al. 1997
Aa(20)ValAsp		GTTGAT		CANTERBURY		Yes	No	Brennan S O et al. 1995
Aa(20)Val frameshiftstop		1215de1T	compound	R3 ROME	a	Yes	No	Asselta R et al. 2001
"		1215t deletion