Fibrinogen variants : Aa chain

Fibrinogen variants : Bb chain

Fibrinogen variants : g chain

Last update : 16/09/2008 - Release 29
Genbank access number : M10014

abnormality
Plasma protein N-26	Native protein N	Gene	Gene status	Name / Origin	Type	Haemorraghes	Thromboses	Authours
		g.194de1A		MOROCCO C2	a			Neerman-Arbez M et al.2001
g(-1)
		IVS1+5 GA		PAKISTANI	a	Yes	No	Asselta R et al. 2000
g(+1)
g(15)
		IVS2 - 3CT		B2, PAKISTANI	a			Neerman-Arbez M et al. 2001
		IVS2+1 GA		WAIKATO	h	Yes	No	Wyatt J et al. 2000
g(16)
g(76)
		IVS3+5 GA		NAPOLI	a	Yes	No	Margaglione M et al. 2000
g(77)
g(82)AlaGly				HANNOVER XVII		Yes	No	Czwalinna A et al. 2002
"				HANNOVER XXVI	h			Czwalinna A 2004	O
"				HANNOVER XXVII	h			Czwalinna A 2004	O
"		c.323CG		(FRANKFURT XIV)	h	No	No	Ivaskevicius V et al. 2005
"		c.323CG		(FRANKFURT XV)	h	No	No	Ivaskevicius V et al. 2005
"			compound	WAIKATO	h	Yes	No	Wyatt J et al. 2000
"		GCTGGT		DUNEDIN	h	Yes	No	Brennan SO et al. 2000
"		778CG	heterozyg	NEW ZEALAND 1	h			Brennan SO et al. 2006
"		"	"	NEW ZEALAND 2	h	Yes		Brennan SO et al. 2006
"		"	"	AUSTRALIA	h	Yes		Brennan SO et al. 2006
"		"	"	GERMANY	h	Yes		Brennan SO et al. 2006
"		C2525G	compound	LEIPZIG II	hd	Yes	No	Meyer M et al. 2008
	g(134)ArgX	G804CT		(Lebanon) 10 cases	a	Yes		Neerman-Arbez M et al. 2004
g(108)
g(109)
g(124)Leustop	Leu150X	c.448delC	homozyg	FRANCE	a	Yes		Neerman-Arbez M et al. 2007
g(139)CysTyr				PRETORIA				Matsuda M et al. 1999	A
g(151)
g(152)
g(152)del-end		del47645-62872		THAILAND	a			Duga S et al. 2003	A
g(153)CysArg				MATSUMOTO IV	h	No	No	Terasawa F et al. 1999
g(165)GlyArg		GGGAGG		(HANNOVER XIV)	h	Yes	No	Czwalinna A et al. 2001	A
"		4682GA		MILANO XII		No	No	Bolliger-Stücki B et al.2001
"				HANNOVER XXI		No	No	Czwalinna A 2003	O
g(196)
		IVS6-320 AT g.5438AT	homozyg	AFIBRINOGEN VICENZA	a	Yes		Spena S et al. 2007
g(197)
g(197)ArgStop	R223X			PUERTO RICO A4	a			Neerman-Arbez M et al.2001
"	R223X		homozyg	HISPANIC	a	Yes	Yes	Fuchs RJ et al. 2007
g(200)GlyVal		c.677GT		COLUMBUS	h			Davis RL et al. 2007
g(227)TrpCys	W253C	TGGTGT		BRATISLAVA	h	Yes	No	Vu D et al. 2005
g(230)AsnHis	N256H	5857AC		LYON IV	h	No	No	Hanss M et al. 2005
g(230)AsnAsp		AATGAT		MIDDLEMORE	h	Yes	No	Brennan S O et al. 2005
g(231)Glustop				HAKATA	a			Iida 2000
g(239)GlnHis		CAGCAT		VICENZA		Yes	No	Castaman G et al. 2005
g(253)TrpGly		C.835TG	homozyg	DARLINGHURST	h	Yes	Yes	Shen CR et al. 2006
g(258)
g(259)
g(262)TyrCys		7187AG	heterozyg	LIBEREC		Yes	No	Kotlín R et al. 2008
g(268)GlyGlu		GGAGAA		KURASHIKI		No	No	Niwa K et al. 1996
g(275)ArgCys				BALTIMORE IV		No	No	Schmelzer C H et al. 1989
"		CGCTGC		BELLINGHAM		No	Yes	Linenberger ML et al.2000
"				BOLOGNA		No	Yes	Haverkate F et al. 1995
"		CGCTGC		CEDAR RAPIDS		No	Yes	Siebenlist KR et al. 2000
"		CGCTGC		FUKUSHIMA		No	No	Imafuku Y et al. 2002
"		CGCTGC		(HANNOVER IX)				Czwalinna A et coll. 2001	A
"		CGCTGC		(HANNOVER X)				Czwalinna A et coll. 2001	A
"				HANNOVER XXX				Czwalinna A 2004	O
"			compound	HERSHEY IV		Yes	No	Flood VH et al. 2008
"		CGCTGC		MILANO V		No	No	Steinmann C et al. 1994
"				MORIOKA		No	No	Terukina S et al. 1987	A
"		CGCTGC		OSAKA II		No	No	Terukina S et al. 1988
"				TOCHIGI		No	No	Yoshida N et al. 1988
"				TOKYO II		No	No	Yamazumi K et al.1988
"		CGCTGC		MATSUMOTO III		No	No	Terasawa F et al. 1999
"		CGCTGC		VILLAJOYOSA		No	Yes	Borrell M et al. 1995
"		CGCTGC		HANNOVER IV		Yes	No	Meyer M et al. 2000	A
g(275)ArgHis		CGCCAC		BARCELONA III		No	Yes	Borrell M et al. 1995
"				BARCELONA IV		No	No	Borrell M et al. 1995
"				BERGAMO II		No	Yes	Reber P et al. 1986
"				CLARO		No	No	Steinmann C et al. 1996
"		7476GA	heterozyg	CORDOBA I		Yes	No	Guglielmone HA et al. 2008
"				ESSEN		No	No	Reber P et al. 1986
"				HAIFA		No	Yes	Kehl M et al. 1984
"				OSAKA III		No	No	Yoshida N et al. 1992
"				PERUGIA		No	No	Reber P et al. 1986
"				SAGA		Yes	No	Yamazumi K et al.1988
"		CA		SURESNES				Mathonnet F et al.1999	A
"		g.5678GA		SHANGAI				Fang Y et al. 2005
g(275)ArgSer		CGCAGC		KAMOGAWA		No	No	Mimuro J et al. 1999
g(279)AlaAsp		GCCGAC		AUCKLAND		Yes	No	Brennan SO et al. 2000
g(280)TyrCys		TACTGC		BANKS PENINSULA		Yes	No	Fellowes A P et al. 1998
g(284)GlyArg		GGGCGG		BRESCIA	h	No	No	Brennan SO et al. 2000
g(289)AlaVal		GCCGTC		DORFEN	h	Yes	No	Dear A et al. 2004
g(292)GlyVal		GGCGTC		BALTIMORE		Yes	Yes	Bantia S et al. 1990
"		GGCGTC		SAINT GALLEN		Yes	No	Stücki B et al. 1999
g(307)His Tyr		CATTAT		MANNHEIM II	h	No	No	Dear A et al. 2004
g(308)Asn Ile				BALTIMORE III		No	No	Bantia S et al. 1990
g(308)AsnLys		AATAAG		BICÊTRE II		No	Yes	Grailhe P et al. 1993
"		AATAAG		KYOTO		No	Yes	Yoshida N et al. 1988
"		AATAAG		MATSUMOTO II		Yes	No	Okumura N et al. 1996
"		AATAAG		MATSUMOTO VI		No	No	Terasawa F al. 2000
g(309)GlyAsp		GCCGAC		HILLSBOROUGH		No	No	Mullin JL et al. 2002
g(310)MetThr		ATGACG		ASAHI		Yes	No	Yamazumi K et al. 1989
"				FRANKFURT VII		Yes	No	Galanakis DK et al. 1993	A
"				HANNOVER XXIX				Czwalinna A 2004	O
g(310)MetTyr				HANNOVER XXI		No	No	Czwalinna A 2003	O
g(313)SerAsn		7590GA			h			Meyer M et al. 2006
g(313)SerAsn		7590GA			h			Meyer M et al. 2006
g(314)IleThr		5846T	heterozyg	KAGOSHIMA			Yes	Niwa K et al. 2007
g(318)AspTyr		GACTAC		BASTIA		No	No	Lounes K C et al. 1999
g(318)AspGly				GIESSEN IV		Yes	Yes	Haverkate F et al. 1995
"		AG						Meyer M et al. 2000	A
g(319)AsnLys		TA						Meyer M et al. 2000	A
g(319)Asndel				HANNOVER XXII	h			Czwalinna A 2004	O
g(319-320)deleted		AATGAT deleted		VLISSINGEN		No	Yes	Koopman J et al. 1991
"		deletion		OTSU		No	No	Terasawa F al. 2003
g(320)AspGly		nt. 7611 GATGGT		patient B, CHINESE	h	No	No	Castaman G et al. 2008
g(322)PheCys		TTTTGT		VILLEURBANNE		No	No	Hanss M et al. 2000	A
g(326)CysSer				CORDOBA		Yes	No	Guglielmone HA et al. 2004
"		7628GA		(HANNOVER XIII)		No	Yes	Czwalinna A et al. 2001	A
g(326)CysTyr				SUHL				Meyer M et al. 2003
"		TGTTAT		FROSTBURG	hd	No	Yes	Dear A et al. 2005
g(327)AlaThr		5884GA		TOKYO V		No	Yes	Hamano A et al. 2004
g(329)GlnArg				NAGOYA		No	No	Miyata T et al. 1989
g(330)AspTyr		GATTAT		KYOTO III		No	No	Terukina S et al. 1989
g(330)AspVal		GATGTT		ALES		No	Yes