Document sans nom

Last update : 01/02/2011 - Release 36
Genbank access number : NG_008833.1

Abnormality
Plasma protein N-30	Native protein N	Gene (as reported)	e-i	Gene statut	Name / Origin	Type	Haemorraghes	Thromboses	Authours
Bβ(8)
		IVS1+2076ga			SRI LANKA	a	Yes	Yes	Dear A et al. 2006
Bβ(9)
Bβ (9-72)deleted		exon 2 deleted			NEW YORK		No	Yes	Liu C Y et al. 1985
Bβ (14)ArgCys		CGTTGT			CHRISTCHURCH II		No	Yes	Brennan S O et al. 1997
"		CGTTGT			CHRISTCHURCH III		No	Yes	Brennan S O et al. 1997
"		CGTTGT			IJMUIDEN		No	Yes	Koopman J et al. 1992
"		CGTTGT			LONDON VIII ?		No	Yes	Vakalopoulou S et al. 1999
"		CGTTGT			SEATTLE		No	No	Pirkle H et al. 1987	L
"					HANNOVER XIX		Yes		Czwalinna A 2003	O
"		CT			VICENZA III		No	Yes	Castaman G et al. 2005
"				heterozyg	ST-GERMAIN III			Yes	de Raucourt E et al. 2006
Bβ (15)GlyCys		GGTTGT			FUKUOKA II		No	No	Kamura T et al. 1995
"				heterozyg	HAMAMATSU II		No	Yes	Kamijyo Y et al. 2009
"					ISE		No	No	Yoshida N et al. 1991
"		2815GT			KOSAI		No	Yes	Hirota-Kawadobora M et al. 2003
"		2815GT			OGASA		No	No	Hirota-Kawadobora M et al. 2003
Bβ (17)	R47stop			compound	GENEVA	a	Yes	Yes	Vu D et al. 2003
Bβ (17)Argstop		3282CT			IRAN 1	a	Yes	No	Asselta R et al. 2002
"		3282CT		compound	ITALIAN	h	Yes	No	Asselta R et al. 2004
"				compound	FREIBURG I	a			Czwalinna A 2004	O
"				compound	SHANGAI	a			Fang Y et al. 2005
Bβ (41)Tyrstop		3356TG			TOTTORI II	h	Yes	No	Mimuro J et al. 2003
Bβ (44)ArgCys		CGTTGT			NIJMEGEN		No	Yes	Koopman J et al. 1992
Bβ (53)Lysframeshift stop	Lys83IlefsX3	c.248_249delAGinsT		homozyg	SPAIN	a	Yes		Neerman-Arbez M et al. 2007
Bβ (58)Lysframeshit-41aa-stop		3404del A			CHRISTCHURCH V	h	Yes	Yes	Brennan SO et al. 2006
Bβ (61)AspGly		GATGGT			MIAMI				Galanakis DK et al. 1996	A
Bβ (67)HisLeu		4864AT	e 2	homozyg	SUMPERK	h			Kotlín R et al. 2008
Bβ (68)AlaThr		GCTACT			MILANO II = NAPLES		No	Yes	Koopman J et al. 1992
"		GCTACT			SHIZUOKA		No	No	Yonekawa O et al. 1997	A
Bβ(72)

Bβ(73)
Bβ (111)Ser del		3590_3592del			KYOTO IV		No	No	Okumura N et al. 2005
Bβ (118)MetLys	M148K	4075TA			LYON	h	Yes	Yes	Hanss M et al. 2005
Bβ(133)

Bβ(134)
Bβ (137Asn-141Glu)del	Asn167-glu171del	c.498_512del	e 4	heterozyg	EPSOM	hd	Yes	No	Brennan SO et al. 2009
Bβ (148)LysAsn					MERIVALE II		No	No	Maghzal GJ et al. 2003
Bβ (160)AsnSer		TAATGA			NIIGATA		No	No	Sugo T et al. 1999	A
Bβ (165)LeuPro		CTTCCT			(LONDON GC)		Yes	No	Mitchell M et al. 2002	A
Bβ (166)ArgCys		CGTTGT			LONGMONT		Yes	No	Lounes KC et al. 2000
Bβ (172)LeuGln		5157TA		compound	ITALIAN	h	Yes	No	Asselta R et al. 2004
Bβ(209)

Bβ(210)
Bβ (236)Tyrstop		5909TG			LOZANNE		No	Yes	Hanss M et al. 2003
Bβ (236)TyrCys		5909AG		compound	PARIS IX	h	Yes	No	Horellou MH et al. 2006
Bβ (237)ArgSer		7344 AT		heterozyg	ZNOJMO		No	Yes	Kotlin R et al. 2010
Bβ(247)

Bβ(248)
Bβ (255)ArgCys					HANNOVER XV		Yes	No	Czwalinna A et al. 2002	A
"					HANNOVER XVI		No	Yes	Czwalinna A et al. 2002	A
Bβ (255)ArgHis		6654GA			(HANNOVER XII)	a	Yes	No	Czwalinna A et al. 2001	A
"					MERIVALE	h	Yes	No	Maghzal GJ et al. 2003
Bβ (264)ArgGly		c.882AG		heterozyg	NOTTINGHAM II	h			Hill MB et al. 2006
Bβ (266)Trpstop	Trp296X	g.6687GA		homozyg	P3 ITALY (Sardinia)	a	Yes		Monaldini L et al. 2007
Bβ (277)AlaVal	Ala307Val	c.764CT	e 6	heterozyg	FOXTON	(h)	No	No	Davis RL et al. 2008
Bβ (289)
		IVS6+1GA			AVON	h			Homer V et al. 2002
		IVS6+13CT			IRAN 3	a			Spena S et al. 2003
		IVS6-10_16delT,T,T,G		compound	MATSUMOTO IX	h	No	No	Terasawa F et al. 2010
		IVS6-9de14			LONDON MM		Yes	No	Mitchell M et al. 2002	A
Bβ (290)
Bβ (316)AspTyr		GACTAC			HAMILTON	h	Yes	No	Brennan SO et al. 2001
Bβ (326)TyrCys	Y356C	c.1067AG			VILLEURBANNE II	h	Yes		Hanss M et al. 2007
Bβ (335)AlaThr					PONTOISE				Kaudewitz H et al. 1986	L
Bβ (347)GlyArg					(LONDON LB)		Yes	No	Mitchell M et al. 2002	A
Bβ (347)GlyArg				compound	SHANGAI	a			Fang Y et al. 2005
Bβ(351)AsnLys		8578 TA		heterozyg	ROKYCANY	h	No	No	Kotlin R et al. 2010
Bβ (353)LeuArg		CTCCGC			Afibrinogène MILANO	a	Yes	No	Duga S et al. 2000
Bβ (385)
		IVS7+1GT			ITALY 2	a			Spena S et al. 2002
		IVS7+1GC		compound	PARIS IX	h	Yes	No	Horellou MH et al.2006
Bβ (386)
Bβ (393) GlnStop	Q423X	nt.7893CT			patient A, VICENZA	h	Yes	No	Castaman G et al. 2008
Bβ (400) GlyAsp		GA			Afibrinogène MILANO II	a	Yes	No	Duga S et al. 2000
Bβ (402) TrpStop	W432X	7919GA			LYON II	h	No	No	Hanss M et al. 2005
Bβ (413)AsnSer	Asn443Ser	c.1328AG		heterozyg	NEW LYNN	h	No	No	Davis RL et al. 2009
Bβ (414)GlyAla	Gly444Ala	c.1331GC		heterozyg	PAPAMOA	h	Yes		Davis RL et al. 2009
Bβ (414) GlySer	G444S			compound	GENEVA	a	Yes	Yes	Vu D et al. 2003
"					HANNOVER XVIII		Yes	No	Czwalinna A et al. 2002	A
"					HANNOVER XX		No	No	Czwalinna A 2003	O
"		9348GA	e 8	heterozyg	UNICOV	(h)			Kotlín R et al. 2008
Bβ (419) GlyfsX16		7972delG		compound with 1441/K polymorphism	ANHUI	a	Yes		Xu XC et al. 2006
Bβ (434) GlyAsp		8017GA			MUMBAI	a			Monaldini L et al. 2006
Bβ (437)	W467X	TGGTAG			PALESTINIAN	a	Yes	No	Neerman-Arbez M et al. 2003
Bβ (437) TrpGly		8025TG		homozyg	IRAN 2	a			Spena S et al. 2003
Bβ (440) TrpStop		8035GA			MOUNT EDEN	h	Yes	No	Homer VM et al. 2002
Bβ (461) extension 12aa-stop		8101AG			MAGDEBURG II		Yes	No	Franke K et al. 2002	A
Bβ (462) extension 12aa-stop		TAGAAG			OSAKA VI		Yes	No	Sugo T et coll 1999	A

NOTES :

Column 5 : "h" in case of hypofibrinogenaemia, "a" in case of afibrinogenaemia, “m” in case of amyloidosis
Column 8 : "A" in case of observation mentioned in a congress abstract, "L" in a book chapter, "O" for on-line submission
The first author of the team reporting the molecular abnormality is mentioned

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