|
abnormality
|
|
Plasma
protein N-30 |
Native
protein N |
Gene
|
Gene status |
Name
/ Origin |
Type
|
Haemorraghes
|
Thromboses
|
Authours
|
|
| Bb
(8) |
|
|
|
|
|
|
|
|
|
| |
|
IVS1+2076g a
|
|
SRI LANKA |
a |
Yes |
Yes |
Dear A et al. 2006
|
|
| Bb
(9) |
|
|
|
|
|
|
|
|
|
| Bb
(9-72)deleted |
|
exon 2 deleted
|
|
NEW
YORK |
|
No |
Yes |
Liu C Y et al. 1985
|
|
| Bb(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 |
|
| Bb(15)GlyCys |
|
GGTTGT
|
|
FUKUOKA
II |
|
No |
No |
Kamura T et al. 1995
|
|
|
" |
|
|
|
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 |
|
| Bb
(17) |
R47stop
|
|
compound
|
GENEVA |
a |
Yes
|
Yes
|
Vu D et al. 2003
|
|
| Bb(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
|
|
| Bb(41)TyrStop |
|
3356TG |
|
TOTTORI II |
h
|
Yes
|
No
|
Mimuro J et al. 2003
|
|
| Bb(44)ArgCys |
|
CGTTGT
|
|
NIJMEGEN |
|
No |
Yes |
Koopman J et al.
1992 |
|
| Bb
(53)Lysframeshift stop |
Lys83IlefsX3 |
c.248_249delAGinsT
|
homozyg |
SPAIN |
a |
Yes
|
|
Neerman-Arbez M et al. 2007
|
|
| Bb (58)Lysframeshit-41aa-stop |
|
3404del A |
|
CHRISTCHURCH V |
h |
Yes |
Yes |
Brennan SO et al. 2006 |
|
| Bb(61)AspGly |
|
GATGGT
|
|
MIAMI |
|
|
|
Galanakis DK et al.
1996 |
A |
| Bb(68)AlaThr |
|
GCTACT
|
|
MILANO
II ou NAPLES |
|
No |
Yes |
Koopman J et al.
1992 |
|
|
" |
|
GCTACT
|
|
SHIZUOKA |
|
No |
No |
Yonekawa O et al.
1997 |
A |
| Bb
(72) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(73) |
|
|
|
|
|
|
|
|
|
| Bb (111)Ser del |
|
3590_3592del
|
|
KYOTO IV |
|
No
|
No
|
Okumura N et al. 2005
|
|
| Bb (118)MetLys |
M148K
|
4075TA
|
|
LYON |
h
|
Yes
|
Yes
|
Hanss M et al. 2005
|
|
| Bb
(133) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(134) |
|
|
|
|
|
|
|
|
|
| Bb(148)LysAsn |
|
|
|
MERIVALE
II |
|
No
|
No
|
Maghzal GJ et al.
2003 |
|
| Bb(160)AsnSer |
|
TAATGA
|
|
NIIGATA |
|
No |
No |
Sugo T et al. 1999
|
|
| Bb(165)LeuPro |
|
CTTCCT
|
|
(LONDON GC) |
|
Yes
|
No
|
Mitchell M et al. 2002
|
A |
| Bb(166)ArgCys |
|
CGTTGT
|
|
LONGMONT |
|
Yes |
No |
Lounes KC et al.
2000 |
|
Bb(172)LeuGln
|
|
5157TA
|
compound
|
ITALIAN |
h
|
Yes
|
No
|
Asselta R et al. 2004
|
|
| Bb
(209) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(210) |
|
|
|
|
|
|
|
|
|
| Bb
(236)Tyrstop |
|
5909TG |
|
LOZANNE |
|
No
|
Yes
|
Hanss M et al. 2003
|
|
| Bb (236)TyrCys |
|
5909AG |
compound
|
PARIS IX |
h
|
Yes
|
No
|
Horellou MH et al. 2006
|
|
| Bb
(247) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(248) |
|
|
|
|
|
|
|
|
|
| Bb(255)ArgCys |
|
|
|
HANNOVER
XV |
|
Yes |
No |
Czwalinna A et al.
2002 |
A |
| "
|
|
|
|
HANNOVER
XVI |
|
No |
Yes |
Czwalinna A et al.
2002 |
A |
Bb(255)ArgHis
|
|
6654GA
|
|
(HANNOVER
XII) |
a |
Yes |
No |
Czwalinna A et al.
2001 |
A |
"
|
|
|
|
MERIVALE |
h
|
Yes
|
No
|
Maghzal GJ et al.
2003 |
|
Bb (264)ArgGly
|
|
c.882AG
|
heterozyg
|
NOTTINGHAM II |
h
|
|
|
Hill MB et al. 2006
|
|
Bb (266)Trpstop |
Trp296X |
g.6687GA
|
homozyg
|
P3 ITALY (Sardinia) |
a
|
Yes
|
|
Monaldini L et al. 2007
|
|
| Bb(289) |
|
|
|
|
|
|
|
|
|
|
|
|
IVS6-9de14
|
|
(LONDON MM) |
|
Yes
|
No
|
Mitchell M et al. 2002
|
A |
| Bb(290) |
|
|
|
|
|
|
|
|
|
| Bb(289-290) |
|
IVS6+1GA
|
|
AVON |
h |
|
|
Homer V et al. 2003
|
|
" |
|
IVS6+13CT
|
|
IRAN
3 |
a
|
|
|
Spena S et al. 2003
|
|
| Bb(316)AspTyr |
|
GACTAC
|
|
HAMILTON |
h |
Yes |
No |
Brennan SO et al.
2001 |
|
| Bb (326)TyrCys |
Y356C |
c.1067AG |
|
VILLEURBANNE II |
h |
Yes |
|
Hanss M et al. 2007 |
|
| Bb(335)AlaThr |
|
|
|
PONTOISE |
|
|
|
Kaudewitz H et al.
1986 |
L |
| Bb(347)GlyArg |
|
|
|
(LONDON LB) |
|
Yes
|
No
|
Mitchell M et al. 2002
|
A |
| Bb (347)GlyArg |
|
|
compound
|
SHANGAI |
a |
|
|
Fang Y et al. 2005
|
|
| Bb(353)LeuArg |
|
CTCCGC
|
|
Afibrinogen
MILANO |
a |
Yes |
No |
Duga S et al. 2000
|
|
| Bb(385) |
|
|
|
|
|
|
|
|
|
| |
|
IVS7+1GT
|
|
ITALY
2 |
a |
|
|
Spena S et al. 2002
|
|
|
|
|
IVS7+1GC
|
compound
|
PARIS IX |
h
|
Yes |
No |
Horellou MH et al.2006
|
|
| Bb(386) |
|
|
|
|
|
|
|
|
|
| Bb
(393) GlnStop |
Q423X |
nt.7893CT
|
|
patient A, VICENZA |
h
|
Yes
|
No
|
Castaman G et al. 2008
|
|
| Bb(400)GlyAsp |
|
GA
|
|
Afibrinogen
MILANO II |
a |
Yes |
No |
Duga S et al. 2000
|
|
| Bb (402) TrpStop |
W432X
|
7919GA
|
|
LYON II |
h
|
No
|
No
|
Hanss M et al. 2005
|
|
| Bb
(414) |
G444S
|
|
compound
|
GENEVA |
a |
Yes
|
Yes
|
Vu D et al. 2003
|
|
| Bb(414)GlySer |
|
|
|
HANNOVER
XVIII |
|
Yes |
No |
Czwalinna A et al.
2002 |
A |
| " |
|
|
|
HANNOVER
XX |
|
No |
No |
Czwalinna A 2003
|
O |
| Bb (419) Glyframeshift-16aa-stop |
|
7972delG |
compound with 1441/K polymorphism |
ANHUI |
a |
Yes |
|
Xu XC et al. 2006 |
|
| Bb
(434) GlyAsp |
|
8017GA
|
|
MUMBAI |
a |
|
|
Monaldini L et al. 2006 |
|
| Bb(437) |
W467X
|
TGGTAG
|
|
PALESTINIAN |
a |
Yes |
No |
Neerman-Arbez M et
coll. 2003 |
|
Bb(437)TrpGly
|
|
8025TG
|
homozyg
|
IRAN 2 |
a
|
|
|
Spena S et al. 2003
|
|
| Bb(440)TrpStop |
|
8035GA
|
|
MOUNT
EDEN |
h |
Yes
|
No
|
Homer VM et al. 2002
|
|
| Bb(461)
extension 12 residues-stop |
|
8101AG
|
|
MAGDEBURG
II |
|
Yes |
No |
Franke K et al. 2002
|
A |
| Bb(462)
extension 12 residues-stop |
|
TAGAAG
|
|
OSAKA
VI |
|
Yes |
No |
Sugo T et al.1999
|
A |
