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  • 2nd February 2024
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Last update : 31/12/2021 – release 53
GenBank access number : NG_008832.1

Abnormality
Plasma protein N-19 Native protein N Gene (as reported) e-i Gene status Name / Origin Type Haemorraghes Thromboses Authors
Aα(-19) M1L c.1A>T e-1 compound MADAGASCAR a Yes No Tirefort Y et al. 2012
Aα(-19)Met>Val p.Met1Val e-1 compound USA 1 hd Yes No Smith N et al. 2018
g.773: 4.1 kb del e-1 compound ITALY, P1 = FLORENCE, F5 a Yes Monaldini L et al. 2007
-1138C>T e-1 HAMAMATSU h Okumara N et al. 2000 A
Aα(-18)>frameshift-stop 34insC e-1 compound BELGIUM A8 a Neerman-Arbez M et al. 2000
Aα(-14)Ile>Val I6V c.16A>G e-1 compound MADAGASCAR a Yes No Tirefort Y et al. 2012
“ AαIle6Val c.16A>G e-1 compound BAISE h Yes No Zhou W et al. 2018
“ 6Ile>Val c.16A>G e-1 compound Family 2 d No No Wan Y et al. 2021
“ c.16A>G e-1 heterozyg CHINA 20 h Yes No Zhou P et al. 2021
Aα(-12) c.22_30delTGCCTGGTC e-1 homozyg INDIA P1, P4 a Yes Mukaddam A et al. 2015
Aα(-11) p.Cys8stop g.54C>A e-1 homozyg PAKISTAN P5 a Yes No Asselta R et al. 2015
Aα(-2)
11 kb deletion i-1 homozyg GENEVA (4 cases) a Neerman-Arbez M et al. 1999
11 kb deletion i-1 compound FRANCE, A3 a Neerman-Arbez M et al. 2001
11 kb deletion i-1 homozyg FRANCE, C5 a Neerman-Arbez M et al. 2001
11 kb deletion i-1 compound KINGSPORT a Galanakis DK et al. 2007
11 kb deletion i-1 compound SWITZERLAND, B6 a Neerman-Arbez M et al. 2001
11 kb deletion i-1 homozyg SWITZERLAND, B7 a Neerman-Arbez M et al. 2001
11 kb deletion i-1 homozyg SWITZERLAND, C3 a Neerman-Arbez M et al. 2001
11 kb deletion i-1 compound UNITED STATES, B4 a Neerman-Arbez M et al. 2000
IVS1+1G>A i-1 homozyg R99 a Yes (No) Monaldini L et al. 2005
IVS1+3A>G i-1 compound FRANCE, A10 a Neerman-Arbez M et al. 2000
c.54+3A>C i-1 compound KURASHIKI II a Yes No Takezawa Y et al. 2012
Aα(-1)
Aα(-1-41) del c.169_180+2 del e-2 heterozyg SHANGAI (n=2) d No Yes Zhou J et al. 2016
Aα(7)Asp>Asn LILLE No No Morris S et al. 1981 A
Aα(8)Phe>Cys T>G e-2 No No Mumford AD et al. 2001 A
“ p.Phe27Cys c.80T>G e-2 heterozyg UNITED KINGDOM (2 cases) d No Shapiro SE et al. 2013
Aα(8)Phe>Tyr p.Phe27Tyr e-2 P9 d Yes No Marchi R et al. 2021
Aα(9)Leu>Pro 1182T>C e-2 MAGDEBURG No No Meyer M et al. 2003
“ p.Leu28Pro c.83T>C e-2 heterozyg TAIWAN 6 (n=6) d No No Shen MC et al. 2021
Aα(11)Glu>Gly heterozyg MITAKA II Yes No Niwa K et al. 1993
“ A>G e-2 Meyer M et al. 2000 A
Aα(11)Glu del p.E30del c.88_90del e-2 heterozyg SOKA d No No Kaido T et al. 2020
Aα(12)Gly>Val ROUEN Yes No Henschen A et al. 1983 L
“ G>T e-2 SAINT GERMAIN No No Mathonnet F et al. 2002
“ Gly31Val c.92C>T e-2 heterozyg MULTINATIONAL d Yes No Casini A et al. 2015
Aα(12)Gly>Glu p.Gly31Glu c.92G>A e-2 heterozyg Chinese d Wang X et al. 2019
“ (p.Gly31Glu) c.92G>A e-2 heterozyg ZHENGZHOU d No No Qiao Y et al. 2020
Aα(13)Gly>stop 1193G>T e-2 compound ITALY, P1 = FLORENCE, F5 a Yes No Asselta R et al. 2001
Aα(13)Gly>Arg 1223G>C e-2 heterozyg NANNING (n=4) d Yes No Yan J et al. 2016
Aα(13)Gly>Glu HANNOVER XXV Czwalinna A 2004 O
“ 4864G>A e-2 heterozyg OLOVNICE Yes Kotlín R et al. 2011
“ Gly32Glu c.95G>A e-2 heterozyg KRAKOW II (2 cases) Yes Pietrys D et al. 2011
“ g.3447G>A e-2 compound SUMPERK II d Yes No Kotlin R et al. 2012
“ p.Gly32Glu c.95G>A e-2 heterozyg SLOVAKIA F2 (n=3) d Yes/No No Simurda T et al. 2020
“ p.Gly32Glu c.95G>A e-2 heterozyg SLOVAKIA F3 (n=3) d Yes No Simurda T et al. 2020
Aα(14)Gly del p.Gly33del g.6225-27AGGdel e-2 ? Chinese d No No Zhou J et al. 2015
Aα(15)Val>Glu T>A e-2 Meyer M et al. 2000 A
Aα(16)Arg>Cys 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
“ CGT>TGT e-2 BRAUNSCHWEIG No Yes Meyer M et al. 2000 A
“ e-2 heterozyg Chinese Ouyang Q et al. 2011
“ p.Arg35cys c.103C>T e-2 heterozyg DALLAS d?, fsd No Lee MJ et al. 2015
“ CGT>TGT e-2 ERFURT No No Meyer M et al. 2000 A
“ CGT>TGT e-2 ERLANGEN Yes No Meyer M et al. 2000 A
“ CGT>TGT e-2 ERLANGEN II No No Meyer M et al. 2000 A
“ CGT>TGT e-2 ERLANGEN III Yes No Meyer M et al. 2000 A
“ CGT>TGT e-2 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. 1995
“ heterozyg FRANKFURT VI (n=3) – – Miesbach W et al. 2009
“ heterozyg FRANKFURT X (n=3) Yes Miesbach W et al. 2009
“ heterozyg FRANKFURT XII (n=2) Yes Miesbach W et al. 2009
“ heterozyg FRANKFURT XIII No No Galanakis D et al. 1993
“ homozyg FRANKFURT XIII (n=2) Yes Yes Miesbach W et al. 2009
“ heterozyg FRANKFURT XVI (n=3) Yes Miesbach W et al. 2009
“ compound FREIBURG Czwalinna A 2004 O
“ GENEVA No No Furlan M et al. 1990
“ CGT>TGT e-2 GIESSEN IV Yes No Meyer M et al. 2000 A
“ CGT>TGT e-2 HANNOVER III No No Meyer M et al. 2000 A
“ CGT>TGT e-2 HANNOVER VIII Czwalinna A et al. 2001 A
“ HANNOVER XXVIII Czwalinna A 2004 O
“ CGT>TGT e-2 HERSHEY II No Yes Galanakis DK et al. 1990 L
“ CGT>TGT e-2 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
“ CGT>TGT e-2 JENA No No Meyer M et al. 2000 A
“ 1202C>T e-2 KAISERSLAUTERN III Yes No Loreth RM et al. 2001 A
“ KAWAGUCHI No No Matsuda M et al. 1986 L
“ LEDYARD Yes No Lee MH et al. 1991
“ CGT>TGT e-2 LEOGAN No No Galanakis DK 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
“ 1202C>T e-2 MILANO XII No No Bolliger-Stücki B et al. 2001
“ 6232C>T e-2 heterozyg NANNING d No Yes Luo M et al. 2018
“ C>T e-2 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
“ 3455C>T e-2 heterozyg OSTRAVA II No No Kotlin R et al. 2010
“ OVIADO II or MADRID II No No Lane D et al. 1987
“ SCHWARZACH No No Henschen A et 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
“ p.Arg35Cys c.103C>T e-2 heterozyg UNITED KINGDOM ( 2 cases) d Yes No Shapiro SE et al. 2013
“ Arg35Cys c.103C>T e-2 heterozyg MULTINATIONAL (9 cases) d Yes Yes Casini A et al. 2015
“ p.Arg35Cys g.6232C>T e-2 ? Chinese (16 cases) d Yes No Zhou J et al. 2015
“ p.Arg35Cys e-2 heterozyg USA 17 hd No No Smith N et al. 2018
“ p.Arg35Cys e-2 compound USA 18 hd Yes No Smith N et al. 2018
“ Arg35Cys e-2 Serbian (9 cases) d No No Castaman G et al. 2019
“ p.Arg35Cys c.103C>T e-2 heterozyg HUNGARY 1 d Yes No Gindele R et al. 2021
“ p.Arg35Cys e-2 P8 (n=2) d No No Marchi R et al. 2021
“ c.103C>T e-2 heterozyg CHINA 2 d Yes No Zhou P et al. 2021
“ c.103C>T e-2 heterozyg CHINA 3 d No No Zhou P et al. 2021
“ c.103C>T e-2 heterozyg CHINA 4 d No No Zhou P et al. 2021
“ c.103C>T e-2 heterozyg CHINA 16 hd No No Zhou P et al. 2021
“ p.Arg35Cys c.103C>T e-2 heterozyg IRAN 6 d Yes No Mohsenian S et al. 2021
Aα(16)Arg>His 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 KR et al. 1988
“ CHAPEL HILL II Yes No Carrell N et al. 1985 L
“ c.104G>A e-2 heterozyg Chinese II (I-1) d No No Luo M et al. 2016
“ c.104G>A e-2 heterozyg Chinese II (II-2) d No No Luo M et al. 2016
“ c.104G>A e-2 heterozyg Chinese II (III-3) d No No Luo M et al. 2016
“ G1233A e-2 heterozyg Chinese (4 cases) d Zhang YL et al. 2017
“ 1233C>A e-2 heterozyg GUANGXI (4 cases) d No No Yan J et al. 2017
“ CGT>CAT e-2 KAISERSLAUTERN II Yes No Loreth RM et al. 1997 A
“ CLERMONT-FERRAND Soria J et al. 1985 L
“ GIESSEN Yes No Alving BM et al. 1987
“ KENDAL Lane DA et al. 1987 L
“ KIEL No No Seydewitz HH et al. 1991
“ G>A e-2 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 DK et al. 1983
“ CGT>CAT e-2 LÜBECK No No Meyer M et al. 2000 A
“ CGT>CAT e-2 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
“ CGT>CAT e-2 NEW BRITAIN No No Webb CD et al. 1994
“ OSAKA IV No No Yamazumi K et al. 1993
“ 3456G>A e-2 heterozyg OSTRAVA No No Kotlin R et al. 2010
“ PARIS VI Southan C et al. 1987
“ PETOSKEY No No Higgins DL et al. 1981
“ CGT>CAT e-2 POISSY No Yes 1 Mathonnet F et al. 1997
“ CGT>CAT e-2 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 RF et al. 1986
“ SHEFFIELD Yes No Southan C et al. 1987
“ STONY BROOK II Yes No Galanakis DK et al. 1990
“ SYDNEY No No Southan C et al. 1985 L
“ SYDNEY II Southan C et al. 1985 L
“ CGT>CAT e-2 TAHITI Mathonnet F et al. 2001
“ WHITE MARSH Carr ME et al. 1987
“ c.104G>A e-2 heterozyg KRAKOW IV d Yes No Zdziarska J et al. 2011
“ p.Arg35His c.104G>A e-2 heterozyg UNITED KINGDOM d No No Shapiro SE et al. 2013
“ p.Arg35His c.104G>A e-2 heterozyg UNITED KINGDOM d No No Shapiro SE et al. 2013
“ p.Arg35His c.104G>A e-2 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
“ p.Arg35His c.104G>A e-2 heterozyg UNITED KINGDOM d Yes Yes Shapiro SE et al. 2013
“ p.Arg35His c.104G>A e-2 heterozyg UNITED KINGDOM d No Yes Shapiro SE et al. 2013
“ p.Arg35His c.104G>A e-2 heterozyg UNITED KINGDOM d No No Shapiro SE et al. 2013
“ c.104 G>A e-2 heterozyg TOKYO (2 cases) d No No Imamura H et al. 2013
“ Arg35His c.104G>A e-2 heterozyg MULTINATIONAL (14 cases) d Yes Yes Casini A et al. 2015
“ e-2 heterozyg SOUTH ITALY D1 d No No Santacroce R et al. 2006
“ p.Arg35His g.6233G>A e-2 ? Chinese (19 cases) d Yes No Zhou J et al. 2015
“ p.Arg35His e-2 heterozyg USA 13 d Yes No Smith N et al. 2018
“ p.Arg35His e-2 heterozyg USA 14 d Yes No Smith N et al. 2018
“ p.(Arg35His) c.104G>A e-2 heterozyg SURESNES II d Yes No Vasse M et al. 2019
“ p.(Arg35His) c.104G>A e-2 heterozyg SURESNES III d No No Vasse M et al. 2019
“ Arg35His e-2 Italian (4 cases) d Yes Yes Castaman G et al. 2019
“ p.Arg35His c.104G>A e-2 heterozyg CANADA d Yes No Kumar K et al. 2021
“ Arg35His 1233G>A e-2 compound Family 1 d No No Wan Y et al. 2021
“ Arg35His 1233G>A e-2 compound Family 2 d No No Wan Y et al. 2021
“ p.Arg35His c.104G>A e-2 heterozyg HUNGARY 2 (n-5) d No No/Yes Gindele R et al. 2021
“ p.Arg35His c.104G>A e-2 heterozyg HUNGARY 3 (n=3) d Yes No Gindele R et al. 2021
“ p.Arg35His c.104G>A e-2 heterozyg HUNGARY 4 d No No/Yes Gindele R et al. 2021
“ p.Arg35His c.104G>A e-2 heterozyg HUNGARY 5 d Yes Yes Gindele R et al. 2021
“ p.Arg35His c.104G>A e-2 heterozyg SLOVAKIA F1 (n=16) d Yes/No No Simurda T et al. 2020
“ p.Arg35His c.104G>A e-2 heterozyg SLOVAKIA F4 (n=2) d Yes/No No Simurda T et al. 2020
“ p.Arg35His c.104G>A e-2 heterozyg SLOVAKIA F6 (n=2) d Yes/No No Simurda T et al. 2020
“ p.Arg35His c.104G>A e-2 heterozyg SLOVAKIA F7 d Yes No Simurda T et al. 2020
“ p.Arg35His c.104G>A e-2 heterozyg IRAN 3 d Yes No Mohsenian S et al. 2021
“ p.Arg35His c.104G>A e-2 heterozyg IRAN 5 d Yes No Mohsenian S et al. 2021
“ p.Arg35His e-2 P1 d No No Marchi R et al. 2021
“ p.Arg35His e-2 P2 d No No Marchi R et al. 2021
“ p.Arg35His e-2 P3 (n=2) d No No Marchi R et al. 2021
“ p.Arg35His e-2 P4 (n=2) d Yes/No No Marchi R et al. 2021
“ p.Arg35His e-2 P5 d Yes No Marchi R et al. 2021
“ p.Arg35His e-2 P6 d Yes No Marchi R et al. 2021
“ p.Arg35His e-2 P7 d Yes No Marchi R et al. 2021
“ p.Arg35His c.104G>T ? e-2 heterozyg CHINA 1 d No No Zhou P et al. 2021
Aα(16)Arg>Ser e-2 heterozyg FRANKFURT XI Miesbach W et al. 2009
“ p.Arg35Ser c.103C>A e-2 heterozyg UNITED KINGDOM (4 cases) d No No Shapiro SE et al. 2013
“ p.Arg35Ser c.103C>A e-2 heterozyg UNITED KINGDOM (2 cases) d Yes No Shapiro SE et al. 2013
“ p.Arg35Ser c.103C>A e-2 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
“ Arg35Ser c.103C>A e-2 heterozyg MULTINATIONAL d Yes No Casini A et al. 2015
“ p.Arg35Ser g.6232C>A e-2 ? CHINA (3 cases) d No No Zhou J et al. 2015
“ Arg35Ser c.103C>A e-2 heterozyg SHENZHEN (3 cases) d Yes Yes Zhou J et al. 2017
“ Arg35Ser c.103C>A e-2 heterozyg BRISTOL d No No Peck RC et al. 2021
“ Arg35Ser c.103C>A e-2 compound BRISTOL d Yes No Peck RC et al. 2021
“ c.103C>A e-2 heterozyg CHINA 5 d No No Zhou P et al. 2021
“ c.103C>A e-2 heterozyg CHINA 6 d Yes No Zhou P et al. 2021
“ c.103C>A e-2 heterozyg CHINA 7 d No No Zhou P et al. 2021
Aα(16)Arg>Pro p.Arg35Pro c.104G>C e-2 heterozyg UNITED KINGDOM (2 cases) d Yes No Shapiro SE et al. 2013
“ p.Arg35Pro c.104G>C e-2 heterozyg UNITED KINGDOM (2 cases) d Yes No Shapiro SE et al. 2013
“ p.Arg35Pro c.104G>C e-2 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
Aα(17)Gly>Cys c.106G>T e-2 compound AUSTIN d No No Brennan SO et al. 2015
Aα(17)Gly>Ser p.Gly36Ser c.106G>A e-2 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
Aα(17)Gly>Asp Gly36Asp c.107G>A e-2 heterozyg GENEVA II (5 cases) d Yes No Casini A et al. 2014
“ Gly36Asp c.107G>A e-2 heterozyg MULTINATIONAL (2 cases) d Yes No Casini A et al. 2015
Aα(17)Gly>Val e-2 heterozyg BREMEN d Yes No Wada Y et al. 1993
“ c.107G>T e-2 heterozyg CHINA 8 hd Yes No Zhou P et al. 2021
Aα(18)Pro>Leu e-2 heterozyg KANAZAWA d No No Uotani C et al. 1990
“ e-2 heterozyg KYOTO II (2 cases) d Yes No Yoshida N et al. 1991
“ e-2 heterozyg CHINESE Ouyang Q et al. 2011
“ p.Pro37Leu g.6239C>T e-2 ? CHINESE (2cases) d Yes No Zhou J et al. 2015
Aα(19)Arg>Ser e-2 DETROIT d Yes No Blombäck M et al. 1968
“ g.1213G>C e-2 heterozyg P6, CHINESE d Yes No Wang Y et al. 2018
“ p.Arg38Ser c.116G>C ? e-2 heterozyg HUNGARY 6 (n=2) d No No Gindele R et al. 2021
Aα(19)Arg>Asn e-2 MUNICH Yes No Henschen A et al. 1983 L
Aα(19)Arg>Gly e-2 homozyg AARHUS d No Yes Blömback B et al. 1988 L
“ e-2 KUMAMOTO d No Yes Yamaguchi SI et al. 1997
“ e-2 heterozyg MANNHEIM (3 cases) d Yes Yes Dempfle CEH et al. 1990 L
“ 1211 A>G e-2 heterozyg MATSUMOTO V d No No Tanaka H et al. 2001
“ 1212 A>G e-2 heterozyg MILANO XIII (8 cases) d Yes Yes Bolliger-Stücki B et al. 1999
“ AGG>GGG e-2 heterozyg OSLO IV d No No Brennan SO et al. 1997
“ Arg38Gly c.112A>G e-2 heterozyg MULTINATIONAL (4 cases) d Yes Yes Casini A et al. 2015
“ p.Arg38Gly g.1211A>G e-2 heterozyg ITALY P5 h Yes No Asselta R et al. 2015
“ p.Arg38Gly g.1211A>G e-2 heterozyg ITALY P6 h Yes No Asselta R et al. 2015
“ p.Arg38Gly g.6241A>G e-2 ? Chinese (4 cases) d Yes No Zhou J et al. 2015
“ Arg38Gly e-2 Italian (2 cases) d No No Castaman G et al. 2019
Aα(19)Arg>Trp p.R38W c.112A>T e-2 heterozyg BEIJING P1 d Yes No Cao Z et al. 2019
Aα(19)Arg>Thr AαArg38Thr c.113G>C e-2 heterozyg SHANDONG d No No Cai R et al. 2018
“ p.Arg38Thr c.113G>C e-2 heterozyg IRAN 1 d No No Mohsenian S et al. 2021
“ p.Arg38Thr c.113G>C e-2 heterozyg IRAN 2 d Yes No Mohsenian S et al. 2021
“ p.Arg38Thr c.113G>C e-2 heterozyg IRAN 7 d No No Mohsenian S et al. 2021
“ p.Arg38Thr c.113G>C e-2 heterozyg IRAN 8 d Yes No Mohsenian S et al. 2021
“ p.Arg38Thr c.113G>C e-2 heterozyg P1 d Yes No Tavasoli B et al. 2020
Aα(20)Val>Asp GTT>GAT e-2 heterozyg CANTERBURY hd Yes No Brennan SO et al. 1995
“ p.Val39Asp c.116T>A e-2 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
Aα(20)Val>frameshift31aa-stop 1215delT e-2 compound ROME R3 a Yes No Asselta R et al. 2001
“ g.1185delT e-2 compound FRANCE A3 a Neerman-Arbez M et al. 2001
“ 1215delT e-2 compound GEELONG a Yes No Saravanan L et al. 2008
“ e-2 homozyg SOUTH ITALY A1 a Yes Santacroce R et al. 2006
Aα(21)Val>frameshift-stop Val40TrpfsX31 g.1215delT; c.116 delT e-2 compound ITALY P2 (Palermo) a Yes Monaldini L et al. 2007
“ p.(Val40TrpfsTer31) c.117delT e-2 compound CALGARY a Yes Yes Nathoo N et al. 2018
“ c.117delT e-2 compound LOS ANGELES, S3 a Yes No Young GA et al. 2018
Aα(22)Glu>Lys p.Glu41Lys c.121G>A e-2 heterozyg ITALY P2 h Yes No Chinni E et al. 2018
Aα(33)Trp>stop p.Trp52X e-2 compound USA 18 hd Yes No Smith N et al. 2018
p.Trp52stop c.156G>A e-2 homozyg IRAN 14 a Yes No Mohsenian S et al. 2021
p.Trp52Ter c.156G>A e-2 homozyg P2 a Yes No Tavasoli B et al. 2020
p.Trp52Ter c.156G>A e-2 homozyg P3 a Yes No Tavasoli B et al. 2020
p.Trp52Ter c.156G>A e-2 homozyg P4 a Yes No Tavasoli B et al. 2020
Aα(36)Cys>Gly p.Cys55Gly g.6292T>G; c.221T>G e-2 heterozyg LA SEYNE h Yes No Hanss M et al. 2011
“ p.Cys55Gly g.6292T>G; c.221T>G e-2 heterozyg QUIMPER h Yes No Hanss M et al. 2011
Aα(36)Cys>Arg p.Cys55Arg g.6292T>G; c.221T>C e-2 heterozyg MARSEILLES h No Yes Hanss M et al. 2011
“ p.Cys55Arg g.1262T>C e-2 heterozyg ITALY P14 h? No No Asselta R et al. 2015
Aα(38)Asp>frameshift p.Asp57fs g.6298-6311del e-2 ? CHINESE (2 cases) d Yes Zhou J et al. 2015
Aα(39)Glu>Lys (p.Glu58Lys) c.172G>A e-2 heteroz BOE II No No Wang X et al. 2020
“ (p.Glu58Lys) c.172G>A e-2 homozyg BOE II d Yes No Wang X et al. 2020
Aα(41)Trp>stop p.Trp59stop c.G180A e-2 homozyg INDIA P8, P14 h Yes Mukaddam A et al. 2015
Aα(41)
IVS2+1G>C i-2 heterozyg CHINESE h No No Chen H et al. 2008
IVS2+1G>T i-2 heterozyg FREIBURG II h Czwalinna A 2004 O
c.180+2T>C i-2 heterozyg POLAND h Yes Neerman-Arbez M et al. 2007
IVS2+3insCAT i-2 heterozyg MONTPELLIER II (3 cases) hd Yes Yes Vorjohann S et al. 2010
Aα(42)
Aα(45)Cys>Phe g.1749G>T e-3 heterozyg CREMONA h No No Platè M et al. 2008
Aα(45)Cys>Gly (p.Cys64Gly) c.190T>G e-3 compound chinese h? No No Wang X et al. 2020
Aα(45)Cys>Tyr p.Cys64Tyr g.6780G>A; c.249G>A ? e-3 heterozyg MARSEILLE II Yes No Hanss M et al. 2011
” p.Cys64Tyr c.191G>A e-3 heterozyg LOURES Yes Yes3 Watts Soares AW et al. 2020
Aα(47)Ser>frameshift-stop 1754-1755insT e-3 homozyg R76 a Yes No Monaldini L et al. 2005
“ c.196 delT e-3 homozyg Turkish a Yes No Aydin Köker S et al. 2020
Aα(51)Met>Arg 1767T>G e-3 compound ROME R3 a Yes No Platé M et al. 2007
Aα(58)Val>ProLeuMet-stop p.Val77delins ProLeuMetX c.229_231del3ins 12 e-3 homozyg IRAN P6 (Shiraz) a Yes Monaldini L et al. 2007
Aα(68)Lys>Gln p.K87Q c.259A>C e-3 heterozyg TEL AVIV d No Yes Salomon O et al. 2019
Aα(69)Leu>His L88H T>A e-3 heterozyg SAN DIEGO IV Yes Morris TA et al. 2009
Aα(76)Tyr>stop Y95X e-3 homozyg LEBANON, C6 a Neerman-Arbez M et al. 2001
Aα(80)Asn del 1852-1854del e-3 CARACAS VI Yes Yes Marchi RC et al. 2004
Aα(91)Met>Thr p.(Met110Thr) c.329 T>C e-3 heterozyg SURESNES IV d No Yes Vasse M et al. 2019
Aα(95)Arg>Lys Arg114Lys e-3 homozyg Italian (6 cases) d No No Castaman G et al. 2019
“ Arg114Lys e-3 heterozyg Italian d? No No Castaman G et al. 2019
“ p.(Arg114Lys) c.341 G>A e-3 heterozyg Turkish d? No yes Vasse M et al. 2019
Aα(100)Ser>stop 1914C>G e-3 homozyg IRAN I3 a Yes No Asselta R et al. 2001
Aα(102)
IVS3+1_+4del i-3 homozyg USA B12 a Neerman-Arbez M et al. 2001
IVS3+1_+4del i-3 homozyg TURKEY C1 a Neerman-Arbez M et al. 2001
IVS3+1_+4del i-3 homozyg IRAQUI (2 cases) a Yes No Erlacher M et al. 2009
g.1923_1926delGTAA (IVS3+1_+4delGTAA) i-3 homozyg IRAN P2 a? Asselta R et al. 2015
g.1892-1899del i-3 compound SHANGHAI a Fang Y et al. 2003
2008 to 3245 deleted i-3 homozyg FUKUOKA a Yes No Watanabe K et al. 2003
g.1978-3215del i-3 compound SHANGHAI a Fang Y et al. 2003
(c.364 + 86_510 + 43del1238) i-3 compound KURASHIKI II a Yes No Takezawa Y et al. 2012
(c.364 + 86_510 + 43del1238) i-3 homozyg YOKKAICHI a Yes No Takezawa Y et al. 2012
c.364+1G>A i-3 homozyg INDIA BL-21 a Yes No Sumitha E et al. 2013
c.364+1G>A i-3 homozyg INDIA BL-348 h Yes No Sumitha E et al. 2013
c.364+1G>A i-3 homozyg INDIA BL-353 h Yes No Sumitha E et al. 2013
c.364+1G>A i-3 homozyg INDIA BL-369 a Yes No Sumitha E et al. 2013
c.364+1G>A i-3 homozyg INDIA BL-380 h No No Sumitha E et al. 2013
c.364+1G>A i-3 homozyg INDIA BL-535 h No No Sumitha E et al. 2013
Aα(103)
Aα(104)Arg>Cys e-4 homozyg SOUTH ITALY H1 h No No Santacroce R et al. 2006
“ e-4 heterozyg SOUTH ITALY H2 h No No Santacroce R et al. 2006
“ g.3057C>T e-4 heterozyg CARACAS IX h No No Marchi R et al. 2018
Aα(106)Asn>Asp 5324A>G e-4 heterozyg PLZEN No Yes Kotlín R et al. 2009
Aα(108)Tyr>stop p.Tyr127* c.381C>A e-4 homozyg INDIA BL-249 a Yes No Sumitha E et al. 2013
Aα(110)Arg>stop 3075C>T e-4 homozyg PALERMO, P4 a No Yes Asselta R et al. 2001
“ 3075C>T e-4 homozyg BARBADOS, B1 a Yes No Asselta R et al. 2001
“ p.Arg129X c.385C>T e-4 homozyg INDIA P4 (Mumbai) a Yes Monaldini L et al. 2007
“ R129X c.385C>T e-4 compound MADAGASCAR a Yes No Tirefort Y et al. 2012
“ p.Arg129stop g.3075C>T e-4 homozyg PAKISTAN P4 a Yes No Asselta R et al. 2015
“ p.Arg129stop g.3075C>T e-4 homozyg PAKISTAN P9 a Yes No Asselta R et al. 2015
“ p.Arg129stop g.3075C>T e-4 homozyg PAKISTAN P10 a Yes No Asselta R et al. 2015
Aα(110)Arg>Pro p.Arg129pro g.3076G>C e-4 heterozyg ITALY P16 h Yes Yes Asselta R et al. 2015
Aα(112)Ser>Pro p.Ser131Pro c391T>C e-4 heterozyg GDANSK (4 cases) h Yes Yes Mital A et al. 2012
Aα(125)>frameshift-stop 3120-3122delAA e-4 homozyg DUTCH a Yes No Remijn JA et al. 2003
“ 3121delAA e-4 compound BELGIUM A8 a Neerman-Arbez M et al. 2000
“ 3121delAA e-4 compound FRANCE A12 a Neerman-Arbez M et al. 2000
Aα(126)Val>Asp p.Val145Asp c.434T>A e-4 heterozyg CHRISTCHURCH II (2 cases) h Yes No Brennan SO et al. 2017
“ p.Val145Asp c.434T>A e-4 heterozyg IRAN 12 hd Yes No Mohsenian S et al. 2021
Aα(130)Arg>stop p.Arg149stop c.C464T e-4 homozyg INDIA P5, P13 a Yes Mukaddam A et al. 2015
Aα(131)Gln>stop Q150X 3108C>T e-4 homozyg SUSHOU a Yes No Wu S et al. 2005
Aα(141)Arg>Ser e-4 LIMA Yes No Maekawa H et al. 1992
Aα(143)Gln>stop p.Gln162stop g.3174C>T e-4 homozyg PAKISTAN P7 a? Yes No Asselta R et al. 2015
Aα(149)Arg>stop R168X CGA>TGA e-4 homozyg FRANCE B9 a Neerman-Arbez M et al. 2001
“ CGA>TGA e-4 homozyg NORWEGIAN / BAFFIN BAY a Yes No Fellowes AP et al. 2000
“ p.Arg168Ter e-4 compound BONN a Yes Yes Berens C et al. 2016
“ 3192C>T e-4 homozyg CAGLIARI, C9 a Yes No Asselta R et al. 2001
“ 3192C>T e-4 homozyg SASSARI, S2 a Yes No Asselta R et al. 2001
“ 3192C>T e-4 homozyg SASSARI, S3 a Yes No Asselta R et al. 2001
Aα(151)
IVS4+1G>T i-4 compound FRANCE a Yes No Angles-Cano E et al. 2007
IVS4+1G>T i-4 homozyg BELGIUM, A9 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 compound BONN a Yes Yes Berens C et al. 2016
IVS4+1G>T i-4 homozyg FRANCE A2 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 homozyg FRANCE A5 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 homozyg FRANCE A6 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 compound FRANCE A7 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 compound FRANCE A10 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 homozyg FRANCE A11 a Neerman-Arbez M et al. 2001
IVS4+1G>T i-4 homozyg FRANCE B 1 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 homozyg FRANCE B 11 a Neerman-Arbez M et al. 2001
IVS4+1G>T i-4 homozyg GRENOBLE, 2 cases a Yes No Polack B et al. 2010
IVS4+1G>T i-4 compound KEOKUK (2 cases) h Yes Yes Lefebvre P et al. 2004
IVS4+1G>T i-4 compound UNITED STATES, B 3 a Neerman-Arbez M et al. 2000
IVS4+1G>T i-4 compound UNITED STATES, B 4 a Neerman-Arbez M et al. 2000
IVS4+1 G>T i-4 homozyg SOUTH ITALY A3 a Yes Santacroce R et al. 2006
c.510+1G>T i-4 homozyg DUTCH a Yes Van Meegeren MER et al. 2014
c.510+1G>T i-4 homozyg BRON a Yes Yes Le Quellec S et al. 2018
c.510+1G>T i-4 compound CALGARY a Yes Yes Nathoo N et al. 2018
IVS4+1G>T i-4 compoud USA 1 a Yes No Smith N et al. 2018
c.510+2T>G i-4 homozyg INDIA BL-569 a Yes No Sumitha E et al. 2013
c.511-216 15kb del i-4 isodisomy Thai a Yes Yes Spena S et al. 2004
Aα(152)
Aα(159)Arg>stop CGA>TGA e-5 compound GEELONG a Yes No Saravanan L et al. 2008
“ Arg178X g.3807C>T e-5 homozyg VENEZUELAN a Yes No Marchi-Cappelletti R et al. 2009
“ C>T e-5 homozyg SOUTH ITALY A2 a Yes Yes Margaglione M et al. 2015
“ p.Arg178Ter c.532C>T e-5 homozyg ITALY P1 a Yes Yes Chinni E et al. 2018
“ p.Arg178* c.532C>T e-5 compound BRISTOL d Yes No Peck RC et al. 2021
Aα(159)>frameshift-stop g.3808-3809 ins.T e-5 homozyg NEW YORK (2 cases) a Yes Yes Chapin J et al. 2013
Aα(162)Arg>stop Arg181X c.541C>T e-5 homozyg PORTUGAL a Yes Neerman-Arbez M et al. 2007
“ p.Arg181X c.541C>T e-5 compound LOS ANGELES, S3 a Yes No Young GA et al. 2018
Aα(165)Cys>Arg Cys184Arg c.550T>C e-5 heterozyg MULTINATIONAL d Yes Yes Casini A et al. 2015
Aα(165)Cys>Trp p.Cys184Trp g.3827C>G e-5 heterozyg ITALY P19 h No No Asselta R et al. 2015
Aα(169)Leu>frameshift-stop Leu188PhefsX4 c.563_564insT e-5 homozyg COLUMBIA a Yes Neerman-Arbez M et al. 2007
“ p.Leu188PhefsX4 e-5 homozyg USA 2 a Yes No Smith N et al. 2018
Aα(181)Gln>stop p.Gln200stop g.3873C>T e-5 homozyg PAKISTAN P13 a? Yes No Asselta R et al. 2015
Aα(184)Gln>stop Gln203X e-5 homozyg CHINESE 2 a Yes Fang Y et al. 2006
Aα(185)Leu>stop 3884_3885insTGA e-5 homozyg R79 a Yes No Monaldini L et al. 2005
“ Leu204X g.3884_3885insTGA; c.609_610 insTGA e-5 compound ITALY P2 (Palermo) a Yes Monaldini L et al. 2007
Aα(193)Leu>stop Leu212X c.635T>G e-5 homozyg LEBANON (2 cases) a Yes Neerman-Arbez M et al. 2007
Aα(192)Pro>Thr [203?] p.Pro222Thr e-5 heterozyg USA 15 d Yes No Smith N et al. 2018
Aα(217) c.711dup e-5 homozyg MOROCCAN a Yes Van Meegeren MER et al. 2015
Aα(219)Lys>stop 3983 insT e-5 homozyg ARNHEM a Yes No Vlietman JJ et al. 2002
Aα(221)Gln>stop p.Q240X c.718C>T e-5 homozyg EGYPTIAN (n=6) a Yes Wahab A et al. 2010
Aα(229)Trp>stop Trp248X c.743G>A e-5 homozyg BULGARIA a Yes Neerman-Arbez M et al. 2007
“ p.Trp248X c.743G>A e-5 homozyg IRAN P5 (Shiraz) a Yes Monaldini L et al. 2007
Aα(243_244)Glu>frameshift158aa-stop p.Glu262fsX158 c.786_789 delGAGA e-5 homozyg MOROCCO a Yes Robert-Ebadi H et al. 2009
“ p.Glu262_263 fs*158 c.786_789delGAGA e-5 homozyg INDIA BL-502 a Yes No Sumitha E et al. 2013
Aα(252)Arg>stop c.811C>T e-5 homozyg ZAGHOUAN a Yes No Amri Y et al. 2016
Aα(260)Thr>Pro frameshift142aa-stop g.4110delA e-5 compound FRANCE a Yes No Angles-Cano E et al. 2007
Aα(268)>Gln-Glu-Pro-stop 4133insC e-5 homozyg OTAGO h Yes No Ridgway HJ et al. 1997
Aα(270)Pro>Thr e-5 heterozyg SOUTH ITALY D2 (2 cases) d Yes No Santacroce R et al. 2006
Aα(272)ins39aa 4146ins(117bp) e-5 heterozyg CHAMPAGNE AU MONT D’OR No Yes Hanss M et al. 2001 A
Aα(276)Trp>stop Trp295X c.885G>A e-5 homozyg ALGERIA a Yes Neerman-Arbez M et al. 2007
“ Trp295X c.885G>A e-5 homozyg Turkish (3 cases) a Yes Yes Rottenstreich A et al. 2016
“ p.Trp295Stop g.4160G>A e-5 homozyg LATINA P3 hd Yes No Asselta R et al. 2015
Aα(277)Asp>frameshift59aa-stop p.Asp296 fs*59 c.887_894dup7 e-5 homozyg INDIA BL-564 a Yes No Sumitha E et al. 2013
p.Ala307Val c.C920T e-5 homozyg INDIA P16 h Yes Mukaddam A et al. 2015
Aα(291) g.4179delA e-5 compound SWITZERLAND, B6 a Yes No Neerman-Arbez M et al. 2001
“ Aα(310)fsX 4209delA e-5 homozyg IRAN 2 a Yes No Asselta R et al. 2002
Aα(293) (312)SerfsX42 c.934_935insA e-5 homozyg CHINESE a Xue F et al. 2009
“ p.Ser312AlafsTer109 c.934delA e-5 homozyg P5 a Yes No Tavasoli B et al. 2020
“ p.Ser312AlafsTer109 c.934delA e-5 homozyg P6 a Yes No Tavasoli B et al. 2020
Aα(297)Gly>stop G316X GGA>TGA e-5 compound FRANCE A7 a Neerman-Arbez M et al. 2000
Aα(297)Gly>Glu frameshift105aa-stop g.4190delT e-5 homozyg TURKEY B5 a Neerman-Arbez M et al. 2001
“ g.4190delT e-5 homozyg LEBANON, C4 a Neerman-Arbez M et al. 2001
“ Aα(316) fsX105 4220delT e-5 homozyg IRAN 3 a Yes No Asselta R et al. 2002
“ p.Gly316GlufsX105 g.4220delT e-5 homozyg BEOGRAD P1 a? Asselta R et al. 2015
“ p.Gly316GlufsX105 c.945delT e-5 homozyg IRAN 13 a Yes No Mohsenian S et al. 2021
“ p.Gly316GlufsX105 c.945delT e-5 homozyg P7 a Yes No Tavasoli B et al. 2020
“ p.Gly316GlufsX105 c.945delT e-5 homozyg P8 a Yes No Tavasoli B et al. 2020
“ p.Gly316GlufsX105 c.945delT e-5 homozyg P9 a Yes No Tavasoli B et al. 2020
“ p.Gly316GlufsX105 c.945delT e-5 homozyg P10 a Yes No Tavasoli B et al. 2020
Aα(300)Ala>frameshift39aa-stop 6477delA e-5 homozyg PODESIN a Yes No Stikarova J et al. 2013
Aα(312)Thr>Ala p.T331A e-5 non synonymous polymorphism Baumann RE et al. 1993
Aα(314)Ser>Cys g. 6540A>T e-5 compound SUMPERK II d Yes No Kotlin R et al. 2012
Aα(315)Trp>stop W334X e-5 compound FRANCE A12 a Neerman-Arbez M et al. 2000
“ W334X g.g4277a e-5 homozyg TURKEY a Yes Yes Simsek I et al. 2008
” p.Trp334* c.1001G > A e-5 homozyg NIJMEGEN a Yes Yes Saes JL et al. 2020
Aα(323)Gly>frameshift-stop Gly342GlufsX79 c.1025delG e-5 homozyg TUNISIA a Yes Neerman-Arbez M et al. 2007
“ “ c.1025delG e-5 heterozyg MADHIA (3 cases) hd Yes Yes Amri Y et al. 2017
Aα(327)Asn>frameshift-stop Asn346ThrfsX75 c.1037delA e-5 homozyg GERMANY a Yes Neerman-Arbez M et al. 2007
Aα(328)Gln>stop CAA>TAA e-5 compound KEOKUK (2 cases) h Yes Yes Lefebvre P et al. 2004
Aα(328)Gln>Pro 4315A>C e-5 heterozyg SEOUL II Yes Park R et al. 2006
Aα(333)Pro frameshift-stop 4329delC e-5 compound UNITED STATES, B3 a Neerman-Arbez M et al. 2000
Aα(341)Trp frameshift-stop59 p.Trp360LeufsTer59 c.1078_1084delTGGAATC e-5 heterozyg Italian h Yes4 Yes Vilar R et al. 2020
Aα(373)Trp>stop p.Trp354* c.1119 G>A e-5 homozyg ITALY hd Yes No Castaman G et al. 2015
Aα(381)Ser>Phe c.1199C>T e-5 heterozyg AUSTIN d No No Brennan SO et al. 2015
Aα(434)Ser>Asn e-5 CARACAS II No No Maekawa H et al. 1991
Aα(439)Arg>Cys p.Arg458Cys g.4647C>T e-5 heterozyg BORDEAUX No Yes Hanss M et al. 2008
Aα(447)Thr>frameshift17aa-stop p.Thr466 fs*17 c.1398delT e-5 homozyg INDIA BL-376 a Yes No Sumitha E et al. 2013
Aα(452)Gly>Trp-Ser-stop ATT>ATTT e-5 homozyg MILANO III No Yes Furlan M et al. 1994
“ Gly471Trpfs c.1410_1411insT e-5 heterozyg MULTINATIONAL d Yes No Casini A et al. 2015
“ p.Gly471TrpfsX3 g.4685_4686insT e-5 heterozyg ITALY P7 hd Yes No Asselta R et al. 2015
Aα(453-454)Pro>stop CCTGAT>CCCTGA e-5 homozyg NIEUWEGEIN No No Collen A et al. 2001
“ p.Asp473Ter c.1415_1416 insC e-5 heterozyg Moroccan d No Yes Tajdar M et al. 2017
“ p.Pro472ProfsX1 g.4689_4690insC e-5 homozyg MOROCCO P1 hd No No Asselta R et al. 2015
“ p.Pro472ProfsX1 c.1415_1416 insC e-5 homozyg NIMES d No Yes Bouvier S et al. 2018
Aα(461)Lys>stop AAA>TAA e-5 homozyg MARBURG hd Yes Yes Koopman J et al. 1992
“ 4713A>T e-5 GIESSEN h Yes No Nielssen A et al. 2002 A
Aα(465)Thr>frameshift12aa-stop 4727delC e-5 heterozyg WILMINGTON Yes Brennan SO et al. 2006
Aα(467)Glu>stop 4731G>T e-5 CARACAS Yes No Marchi R et al. 2001
“ 4731G>T e-5 heterozyg GUARENAS Yes Marchi R et al. 2006
Aα(472)Cys>Ser C491S c.1472 G>C e-5 heterozyg SUMIDA (2 cases) hd No No Ikeda M et al. 2015
Aα(476)Met>4aa-stop 4758_4770del e-5 heterozyg LINCOLN (4 cases) Yes No Brennan SO et al. 2002
Aα(476)Met>frameshift-stop Met495Hisfs c.1482-1495del e-5 homozyg MULTINATIONAL d No Yes Casini A et al. 2015
Aα(494)His>frameshift-stop 4841delC e-5 PERTH Yes No Homer VM et al. 2003
“ c.1541 delC e-5 heterozyg BRISTOL (5 cases) d No Yes Westbury SK et al. 2013
Aα(494)His>Pro-frameshift23aa C1537delA e-5 heterozyg MANNHEIM V No No Dempfle CE et al. 2009
Aα(496)Asp>Asn D515N c.G1543A e-5 heterozyg GRAND LYON III h Hanss M et al. 2007
“ c.1543G>A e-5 compound MONTREAL h Yes No Campbell R et al. 2006
“ p.Asp515Asn g.9860G>A e-5 ? CHINESE (2 cases) d Yes No Zhou J et al. 2015
Aα(499)Ala>frameshift-stop 1608delC e-5 SAN GIOVANNI ROTONDO No No Margaglione M et al. 2001
“ delC e-5 heterozyg SOUTH ITALY D3 (2 cases) d No No Santacroce R et al. 2006
“ Ala518fs >Stop c.1608 delC e-5 Italian (2 cases) d Yes No Castaman G et al. 2019
Aα(517-522)delins31aa-stop 1636_1650del,1649_1650insCA e-5 SEOUL m No No Kang HG et al. 2005
Aα(519)Gly>Glu frameshift30aa-stop (p.G538E*30) c.1611delA e-5 heterozyg French m No No Rowczenio D et al. 2017
Aα(519)Gly>Arg p.Gly538Arg c.1612G>A e-5 homozyg MULTINATIONAL ? Rowczenio DM et al. 2014
Aα(519)Gly>Glu p.Gly538Glu c.1613G>A e-5 homozyg MULTINATIONAL ? Rowczenio DM et al. 2014
Aα(521)Phe>Ser frameshift27aa-stop p.Phe540Serfs*27 c.1619_1622delTTGT e-5 homozyg MULTINATIONAL m Rowczenio DM et al. 2014
” (p.F540Sfs*27) c.1619_1622delTTGT e-5 heterozyg French m No No Rowczenio D et al. 2017
Aα(522-548)frameshift-stop 4897del e-5 PARIS VII m Hamidi Asl L et al. 1997
Aα(523)Ser>Arg frameshift24aa-stop c.4899_4902delAGTG e-5 heterozyg JAPAN m Yazaki M et al. 2015
Aα(524-548)frameshift-stop 4904del e-5 INDIANAPOLIS IV m Uemichi T et al. 1996
Aα(524)Glu>Lys p.Glu543Lys c.1627G>A e-5 homozyg MULTINATIONAL m Rowczenio DM et al. 2014
Aα(525)>frameshift c.1632delT e-5 heterozyg CHINESE m Gillmore JD et al. 2009
Aα(526)Glu>Lys p.Glu545Lys c.1633G>A e-5 homozyg MULTINATIONAL m Rowczenio DM et al. 2014
Aα(526)Glu>Val e-5 CHRISTCHURCH IV No No George PM et al. 1996 A
“ GAG>GTG e-5 INDIANAPOLIS II m No No Uemichi T et al. 1994
“ GAG>GTG e-5 INDIANAPOLIS III m No No Uemichi T et al. 1996
“ GAG>GTG e-5 LONDON IX Gillmore JD et al. 2000
“ e-5 AUSTRALIA m Lane SW et al. 2006
“ e-5 No AA amyloidosis, 18 cases m Lachmann HJ et al. 2002
“ A>T e-5 PORTUGAL m De Carvalho M et al. 2004
“ c.1577A>T e-5 heterozyg GERMAN, 3 cases m Eriksson M et al. 2008
“ e-5 heterozyg MONTPELLIER m Gahide G et al. 2008
“ e-5 heterozyg No AA amyloidosis, 46 cases m Gillmore JD et al. 2009
“ e-5 heterozyg PORTUGUESE m Delabre JP et al. 2009
“ e-5 No AA amyloidosis, 21 cases m Stangou AJ et al. 2010
“ Glu545Val e-5 NORTH AMERICAN (2 cases) m Zhen DB et al. 2014
“ e-5 heterozyg CHINESE m Yao Y et al. 2014
“ p.Glu545Val 4909A>T e-5 homozyg PORTUGAL m Yes No Tavares I et al. 2015
“ p.Glu545Val c.1634A>T e-5 heterozyg BRAGA n=16 m Tavares I et al. 2017
“ p.Glu545Val c.1634A>T e-5 heterozyg Portuguese (7), Brasilian (2) m Tavares I et al. 2019
“ p.Glu545Val c.1634A>T e-5 heterozyg HUNGARY 12 ? No No Gindele R et al. 2021
Aα(528)Arg>Gly frameshift21aa-stop p. Arg547GlyfsTer21 c.1639delA e-5 heterozyg Chinese m No No Li D et al. 2019
Aα(532)Ser>Cys TCT>TGT e-5 heterozyg CARACAS V No Yes Marchi R et al. 2000
Aα(536)Thr>Val e-5 NORTH AMERICAN (2 cases) m Zhen DB et al. 2014
Aα(538)Thr>Lys c.1670C>A e-5 heterozyg CHINESE m Gillmore JD et al. 2009
Aα(540)Glu>Val c.1676A>T e-5 heterozyg GERMAN, 2 cases m Gillmore JD et al. 2009
Aα(552)Pro>His c.1712C>A e-5 heterozyg CARIBBEAN m Gillmore JD et al. 2009
Aα(553)Ser>Leu e-5 NORTH AMERICAN m Zhen DB et al. 2014
Aα(554)Arg>Cys CGT>TGT e-5 heterozyg CHAPEL HILL III d No Yes Wada Y et al. 1994
” CGT>TGT e-5 heterozyg DUSART / PARIS V (4 cases) d No Yes Koopman J et al. 1993
” CGT>TGT e-5 HANNOVER II d No Yes Meyer M et al. 1999 A
” CGT>CTT e-5 HANNOVER XI d No Yes Czwalinna A et al. 2001 A
” CGT>TGT e-5 heterozyg NASHVILLE (11 cases) d No Yes Tarumi T et al. 2000
” CGT>TGT e-5 heterozyg SCANDINAVIA (5 cases) d No Yes Ramanathan R et al. 2013
” c.1717C>T e-5 heterozyg DALLAS d Yes Yes Shen YM et al. 2014
” Arg573Cys c.1717G>C e-5 heterozyg MULTINATIONAL d No No Casini A et al. 2015
” e-5 heterozyg SOUTH ITALY D4 (2 cases) d No Yes Santacroce R et al. 2006
Aα(554)Arg>Leu CGT>CTT e-5 INDIANAPOLIS m No No Benson MD et al. 1993
” CGT>CTT e-5 PARIS VIII m No No Hamidi Asl L et al. 1998
” CGT>CTT e-5 INDIANAPOLIS V m No No Uemichi T et al. 1998
” e-5 heterozyg English (2 cases) m Gillmore JD et al. 2009
” 4993G>T e-5 SPAIN (2 cases) m No No Haidinger M et al. 2013
” 4993G>T e-5 LONDON m Stangou et al. 2010
” e-5 NORTH AMERICAN m Zhen DB et al. 2014
Aα(554)Arg>His R573H G>A e-5 heterozyg SAN DIEGO V Yes Morris TA et al. 2009
” (p.R573H) c.1718G>A e-5 heterozyg British m No No Rowczenio D et al. 2017
Aα(555)Gly>Phe p.Gly574Phe c.1720_1721delinsTT e-5 homozyg MULTINATIONAL m Rowczenio et al. 2014
” (p.G574F) c.1720_1721delGGinsTT e-5 heterozyg Norwegian m No No Rowczenio D et al. 2017
Aα(556)Lys>frameshift74aa-stop p.Lys575 fs*74 c.1725 delA e-5 homozyg INDIA BL-273 a Yes No Sumitha E et al. 2013
Aα(587) p.Thr616HisfsX32 c.1846 del A e-5 heterozyg SOUTH SYRIA (7 cases) h No No Levrat E et al. 2011
” p.Thr616HisfsX32 c.1846 del A e-5 homozyg SOUTH SYRIA (5 cases) a Yes Yes Levrat E et al. 2011
Aα(587)Thr>His frameshift32aa-stop Thr616HisfsX32 c.1846 del A e-5 homozyg Syrian a Yes Yes Lebreton A et al. 2014
Aα(559-625)delins72 578_644delins72 5011-5012delins10 e-5 heterozyg GRAND LYON h Yes No Hanss M et al. 2005
Aα(612)
i-5
Aα(612)
Aα(653)Trp>Arg 672Trp>Arg c.2014T>C e-6 compound Family 1 d No No Wan Y et al. 2021
Aα(710)Glu>Lys c.2185G>A e-6 heterozyg CHINA d No No Li S et al. 2020
Aα(723)Phe>Tyr p.Phe742Tyr g.11246T>A e-6 Chinese d No No Zhou J et al. 2015
Aα(774)Trp>Gly p.Trp795Gly c.T2383G e-6 homozyg INDIA P15 h Yes Mukaddam A et al. 2015
AαE(790)Tyr>Cys c.2425A>G e-6 compound MONTREAL h Yes No Campbell R et al. 2006

NOTES :
Column 7 : « a »: afibrinogenemia, « d »: dysfibrinogenemia, « h »: hypofibrinogenemia, « hd »: hypodysfibrinogenemia, « m »: amyloidosis, « ? »: lack of evidence
Column 11 : « 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
1 : post-partum DIC

2 : antifibrinogen
Renal amyloidosis : Indianapolis, Indianapolis II, Indianapolis III, Indianapolis IV, Indianapolis V, Paris VII, Paris VIII. These abnormalities belong to the Aa 522-554 region

3: associated with a protein S deficiency

4: associated with hemophilia A

Last update : 31/12/2021 – release 53
GenBank access number : NG_008833.1

Abnormality
Plasma protein N-30 Native protein N Gene (as reported) e-i Gene status Name / Origin Type Haemorraghes Thromboses Authors
Bβ(8)
IVS1+2076g>a i-1 homozyg SRI LANKA a Yes Yes Dear A et al. 2006
Bβ(9)
Bβ(9-72) del exon 2 deleted e-2 NEW YORK No Yes Liu C Y et al. 1985
Bβ(10)Phe>frameshift11aa-stop Phe40framshiftX52 g.2833_2834 ins.GTTT e-2 homozyg SUZHOU a Yes No Zhang J et al. 2014
Bβ(14)Arg>Cys CGT>TGT e-2 CHRISTCHURCH II No Yes Brennan SO et al. 1997
“ CGT>TGT e-2 CHRISTCHURCH III No Yes Brennan SO et al. 1997
“ CGT>TGT e-2 IJMUIDEN No Yes Koopman J et al. 1992
“ CGT>TGT e-2 LONDON VIII No Yes Vakalopoulou S et al. 1999
“ CGT>TGT e-2 SEATTLE No No Pirkle H et al. 1987 L
“ e-2 HANNOVER XIX Yes Czwalinna A 2003 O
“ C>T e-2 VICENZA III No Yes Castaman G et al. 2005
“ e-2 heterozyg SAINT-GERMAIN III Yes de Raucourt E et al. 2006
“ p.Arg44Cys c.130C>T e-2 heterozyg UNITED KINGDOM d No Yes Shapiro SE et al. 2013
“ Arg44Cys c.130C>T e-2 heterozyg MULTINATIONAL d No Yes Casini A et al. 2015
“ Arg44Cys e-2 Italian (3 cases) d No Yes Castaman G et al. 2019
Bβ(15)Gly>Cys GGT>TGT e-2 FUKUOKA II No No Kamura T et al. 1995
“ e-2 heterozyg HAMAMATSU II No Yes Kamijyo Y et al. 2009
“ e-2 ISE No No Yoshida N et al. 1991
“ 2815G>T e-2 KOSAI No Yes Hirota-Kawadobora M et al. 2003
“ 2815G>T e-2 OGASA No No Hirota-Kawadobora M et al. 2003
“ GGT>TGT e-2 heterozyg SHIZUOKA IV d Yes No Kibe T et al. 2013
“ p.Gly45Cys c.133 GGT>TGT e-2 heterozyg KYOTO VII d No No Kaido T et al. 2021
Bβ(15)Gly>frameshift15aa-stop p.Gly45ValfsX15 c.134delG e-2 homozyg LOS ANGELES, S1 a Yes Yes Young GA et al. 2018
“ p.Gly45ValfsX15 c.134delG e-2 homozyg LOS ANGELES, S2 a Yes No Young GA et al. 2018
Bβ(17)Arg>stop 3282C>T e-2 homozyg IRAN 1 a Yes No Asselta R et al. 2002
“ R47X e-2 compound GENEVA a Yes Yes Vu D et al. 2003
“ 3282C>T e-2 compound ITALIAN h Yes Yes Asselta R et al. 2004 / Castaman et al. 2009
“ e-2 compound FREIBURG a Czwalinna A 2004 O
“ e-2 compound SHANGAI a Yes Fang Y et al. 2005
“ p.Arg47stop g.3282C>T e-2 homozyg PAKISTAN P6 a Yes No Asselta R et al. 2015
“ p.Arg47stop g.3282C>T e-2 homozyg PAKISTAN P11 a Yes No Asselta R et al. 2015
“ p.Arg47X c.139C>T e-2 compound LOS ANGELES, S4 a Yes No Young GA et al. 2018
Bβ(41)Tyr>stop 3356T>G e-2 heterozyg TOTTORI II h Yes No Mimuro J et al. 2003
Bβ(41)Tyr>Asn g.3354T>A e-2 heterozyg CARACAS VIII (2 cases) No No Marchi R et al. 2011
Bβ(44)Arg>Cys CGT>TGT e-2 NIJMEGEN No Yes Koopman J et al. 1992
“ p.Arg74Cys c.220 CGT>TGT e-2 heterozyg IIDA II d No No Kaido T et al. 2021
Bβ(44)Arg>Gly c.220C>G e-2 heterozyg INNSBRUCK d Yes No Würtinger P et al. 2015
Bβ(44)Arg>Leu p.Arg74Leu c.221G>T e-2 heterozyg Kurdish (n=5) d No Yes Shlebak AA et al. 2016
Bβ(53)Lys>frameshift-stop Lys83IlefsX3 c.248_249delAGinsT e-2 homozyg SPAIN a Yes Neerman-Arbez M et al. 2007
Bβ(56)Glu>Lys c.256G>A e-2 heterozyg CHINA 21 h No No Zhou P et al. 2021
Bβ(58)Lys>frameshift41aa-stop 3404del A e-2 heterozyg CHRISTCHURCH V (3 cases) h Yes Yes Brennan SO et al. 2006
Bβ(61)Asp>Gly GAT>GGT e-2 heterozyg MIAMI Galanakis DK et al. 1996 and 2014 A
Bβ(65)Cys>Arg p.Cys95Arg g.3426T>C e-2 heterozyg GREECE P15 h? Asselta R et al. 2015
Bβ(65)Cys>Ser p.Cys95Ser c.284G>C e-2 heterozyg Moroccan (2 cases) hd Yes No Casini A et al. 2017
p.Cys95Ser c.284G>C e-2 heterozyg ITALY, P6 hd No No Chinni E et al. 2018
Bβ(65)Cys>Tyr c.284G>A e-2 heterozyg CHINA 17 hd Yes No Zhou P et al. 2021
Bβ(67)His>Leu 4864A>T e-2 heterozyg SUMPERK h Yes Kotlín R et al. 2008
Bβ(68)Ala>Thr GCT>ACT e-2 MILANO II = NAPLES No Yes Koopman J et al. 1992
“ GCT>ACT e-2 SHIZUOKA No No Yonekawa O et al. 1997 A
“ p.Ala98Thr g.8006G>A e-2 CHINESE (5 cases) d No Yes Zhou J et al. 2015
“ GCT>ACT e-2 homozyg HAMAMATSU d No Yes Yoshida S et al. 2017
Bβ(72)
i-2
Bβ(73)
Bβ(88)Glu>stop p.Glu118X c.352C>T e-3 compound DANISH a Yes No Casini A et al. 2014
Bβ(111)Ser del 3590_3592del e-3 KYOTO IV No No Okumura N et al. 2005
Bβ(118)Met>Lys M148K 4075T>G e-3 heterozyg LYON (2 cases) h Yes Yes Hanss M et al. 2005
Bβ(121)Leu>Arg p.Leu151Arg ? c.452T>G ? e-3 heterozyg WHENZOU h No No Zhang H et al. 2019
Bβ(134)Asp>Ser frameshift33aa-stop c.490G>A e-3 heterozyg KYOTO IX (2 cases) h No No Taira C et al. 2017
Bβ(134)
i-3
Bβ(134)
Bβ(137Asn-141Glu) del Asn167-Glu171del c.498_512del e-4 heterozyg EPSOM (3 cases) hd Yes No Brennan SO et al. 2009
Bβ(140)Asn>Lys p.N170K c.510T>A e-4 compound KOBE I hd Yoda M et al. 2020
Bβ(148)Lys>Asn e-4 compound MERIVALE II h Yes No Maghzal GJ et al. 2003
“ c.534 G>C e-4 compound CAVERSHAM (2 cases) h Yes No Brennan SO et al. 2014
Bβ(150)Gln>Stop Bβ(180)Gln>Stop g.9661C>T [c.538C>T] e-4 homozyg MARTIN a Yes No Stanciakova L et al. 2015
“ “ e-4 heterozyg MARTIN (n= 4) h No No Simurda T et al 2016
Bβ(157)Val>frameshift-stop p.Val187GlufsTer2 c.560_561delTG e-4 compound Chinese ? No No Wang X et al. 2020
Bβ(160)Asn>Ser TAA>TGA e-4 NIIGATA No No Sugo T et al. 1999 A
“ p.Asn190Ser g.9692A>G e-4 CHINESE (6 cases) d Yes No Zhou J et al. 2015
“ p.(Asn190Ser) c.569 A>G e-4 heterozyg SURESNES V d No No Vasse M et al. 2019
Bβ(162)Pro>Gln frameshift-stop p.Pro192Glnfs*13 [CCC>CAA] c.574delCC e-4 homozyg TAIWAN 1 a Yes No Shen MC et al. 2021
“ p.Pro192Glnfs*13 [CCC>CAA] c.574delCC e-4 heterozyg TAIWAN 1 (n=3) ? No No Shen MC et al. 2021
Bβ(165)Leu>Pro CTT>CCT e-4 LONDON, GC Yes No Mitchell M et al. 2002 A
Bβ(166)Arg>Cys CGT>TGT e-4 LONGMONT d Yes No Lounes KC et al. 2000
“ c.586C>T e-4 heterozyg SHEFFIELD d No Yes van Vulpen LFD et al. 2018
“ Arg196Cys c.586C>T e-4 heterozyg MULTINATIONAL d Yes No Casini A et al. 2015
“ e-4 heterozyg SOUTH ITALY D5 (3 cases) d No No Santacroce R et al. 2006
“ p.Arg196Cys g.9709C>T e-4 CHINESE d No No Zhou J et al. 2015
“ p.Arg196Cys c.586C>T e-4 heterozyg ITALY, P3 d No No Chinni E et al. 2018
“ p.Arg196Cys c.586C>T e-4 heterozyg SLOVAKIA F1 (n=4) d Yes/No No Simurda T et al. 2020
“ (p.Arg196Cys) c.586C>T e-4 heterozyg HUNGARY 14 (n=2) d Yes/No No Gindele R et al. 2021
Bβ(172)Leu>Gln 5157T>A e-4 compound ITALIAN h Yes No Asselta R et al. 2004
Bβ(184)Ser>Leu frameshift59aa-stop p.Ser214LeufsX59 g.5193delC e-4 homozyg IRAN P12 a Asselta R et al. 2015
Bβ(185)Asp>Asn p.Asp215Asn g.5195G>A e-4 heterozyg CHINA P4 d Yes Yes Asselta R et al. 2015
Bβ(189)Glu>Arg p.Glu219Arg e-4 heterozyg USA 21 h No No Smith N et al. 2018
Bβ(197)Cys>Arg Cys227Arg c.679T>C e-4 homozyg SFAX hd Yes No Amri Y et al. 2016
” Cys227Arg c.679T>C e-4 heterozyg SFAX (n=6) hd No Yes Amri Y et al. 2016
Bβ(197)Cys>Phe p.Cys227Phe c.680G>T e-4 homozyg SOUTHERN ITALY a Yes No Grandone E et al. 2012
Bβ(197)Cys>Ser frameshift45aa-stop Cys227Ser frameshift45aa-stop c.680delG e-4 heterozyg SWISS d Yes No Priovolos A et al. 2015
Bβ(204)Pro>Leu p.P234L c.701C>T e-4 heterozyg Japanese h No No Kaido T et al. 2020
Bβ(209)
IVS4-1G>C i-4 compound Danish a Yes No Casini A et al. 2014
Bβ(210)
Bβ(219_223)Gly_Glu del p.Gly249_Glu253del c.745_759delGGTGAAACATCTGAA homozyg Thai h Yes No Rakmanotham A et al. 2020
Bβ(235)Pro>Leu C>T e-5 non synonymous polymorphism Brennan SO et al. 2000
Bβ(236)Tyr>stop 5909T>G e-5 LOZANNE No Yes Hanss M et al. 2003
Bβ(236)Tyr>Cys Y266C 5909A>G e-5 compound PARIS IX h Yes Yes Horellou MH et al. 2006
Bβ(237)Arg>Ser 7344A>T e-5 heterozyg ZNOJMO d Yes Yes Kotlin R et al. 2010
Bβ(243)Asn c.819_820insT e-5 homozyg INDIA P11 a Yes Mukaddam A et al. 2015
Bβ(247)
IVS5+2T>A i-5 heterozyg ITALY h No Yes Castaman G et al.2015
Bβ(248)
Bβ(255)Arg>Cys e-6 HANNOVER XV Yes No Czwalinna A et al. 2002 A
“ e-6 HANNOVER XVI No Yes Czwalinna A et al. 2002 A
Bβ(255)Arg>His 6654G>A e-6 HANNOVER XII a Yes No Czwalinna A et al. 2001 A
“ 6654G>A e-6 compound MERIVALE II h Yes No Maghzal GJ et al. 2003
“ 6654G>A e-6 heterozyg MERIVALE (4 cases) h Yes No Maghzal GJ et al. 2003
“ p.Arg285His c.854G>A e-6 heterozyg Swedish h Yes No Fager Ferrari M et al. 2020
Bβ(258)Gly>Ser p.Gly288Ser c.862G>A e-6 homozyg INDIA BL-247 a Yes No Sumitha E et al. 2013
” p.Gly288Ser c.682G>A [c.862?] e-6 heterozyg ITALY, P5 h No No Chinni E et al. 2018
Bβ(264)Arg>Gly c.882A>G [c.880?] e-6 heterozyg NOTTINGHAM II h Yes Hill MB et al. 2006
Bβ(264)Arg>Ser p.Arg294Ser c.882G>C e-6 heterozyg Swiss (2 cases) h No No Casini A et al. 2017
Bβ(266)Trp>stop Trp296X c.887G>A e-6 homozyg ITALY, P3 (Sardinia) a Yes Monaldini L et al. 2007
Bβ(269)Tyr>His p.Tyr299His c.895T>C e-6 homozyg Algerian a Yes Yes Casini A et al. 2014
Bβ(272)Gly>Arg p.Gly302Arg c.904G>C e-6 homozyg ROSARIO a Yes No Ivaškevicius V et al. 2016
“ p.Gly302Arg c.904G>C e-6 heterozyg ROSARIO (n=3) h No No Ivaškevicius V et al. 2016
“ p.Gly302Arg e-6 heterozyg USA 22 h No No Smith N et al. 2018
Bβ(277)Ala>Val Ala307Val c.764C>T ? e-6 heterozyg FOXTON (h) No No Davis RL et al. 2008
Bβ(277)Ala>Ser p.Ala307Ser c.919G>T e-6 homozyg NORTHERN ITALY a No Yes Grandone E et al. 2012
Bβ(289)
IVS6+1G>A i-6 heterozyg AVON h Homer V et al. 2002
c.958+1G>A i-6 compound LOS ANGELES, S4 a Yes No Young GA et al. 2018
IVS6+13C>T i-6 homozyg IRAN 3 a Yes Spena S et al. 2002
IVS6-10_16del i-6 compound MATSUMOTO IX h No No Terasawa F et al. 2010
c.959-10_16delTTTG i-6 heterozyg BIZERTE h Yes Yes Amri Y et al. 2020
IVS6-9del4 i-6 LONDON, MM Yes No Mitchell M et al. 2002 A
Bβ(290)
Bβ(293)Trp>stop Trp323X g.6977G>A e-7 homozyg SHANGHAI a Yes Yes OuYang Q et al. 2012 O
Bβ(295)Gly>Ala c.974G>C e-7 homozyg RDEYEF a Yes No Amri Y et al. 2016
“ c.974G>C e-7 heterozyg RDEYEF (n=5) h No No Amri Y et al. 2016
Bβ(295)Gly>Arg p.Gly325Arg c.973G>A e-7 heterozyg P2 Finnish h No No Bartolo R et al. 2021
Bβ(303)Ser c.989-999delinsCCAGG e-7 homozyg MUMBAI 2 d No No Patil R et al. 2016
Bβ(316)Asp>Tyr GAC>TAC e-7 heterozyg HAMILTON (2 cases) h Yes No Brennan SO et al. 2001
Bβ(326)Tyr>Cys Y356C c.1067A>G e-7 heterozyg VILLEURBANNE II (2 cases) h Yes Hanss M et al. 2007
“ (p.Tyr356Cys) c.1067A>G e-7 heterozyg HUNGARY 20 (n=4) h Yes/No Yes/No Gindele R et al.2021
Bβ(335)Ala>Thr e-7 PONTOISE Kaudewitz H et al. 1986 L
Bβ(338)Tyr>His Tyr368His c.1102T>C e-7 homozyg MARTIN II h No Yes Simurda T et al. 2018
“ Tyr368His c.1102T>C e-7 heterozyg MARTIN II (3cases) h No Yes Simurda T et al. 2018
Bβ(338)Tyr>Cys p.Tyr368Cys c.1103A>G e-7 heterozyg P1 France h No No Bartolo R et al. 2021
Bβ(339)Gln>stop c.1105C>T e-7 heterozyg CARACAS (2 cases) h Yes No Marchi R et al. 2013
Bβ(345)Tyr>Cys p.Tyr375Cys e-7 heterozyg USA 24 h No No Smith N et al. 2018
Bβ(347)Gly>Arg e-7 LONDON, LB Yes No Mitchell M et al. 2002 A
“ e-7 compound SHANGAI a Fang Y et al. 2005
Bβ(351)Asn>Lys 8578T>A e-7 heterozyg ROKYCANY h No No Kotlin R et al. 2010
Bβ(353)Leu>Arg 7156T>G e-7 homozyg Afibrinogen MILANO a Yes No Duga S et al. 2000
p.Thr378Ile c.C1133T e-7 homozyg INDIA P10 h Yes Mukaddam A et al. 2015
Bβ(375)Tyr>Cys e-7 ADELPHI d No No Galanakis DK et al. 2014
Bβ(377)Thr>Lys p.Thr407Lys g.7228C>A e-7 homozyg PAKISTAN P8 a? Yes No Asselta R et al. 2015
Bβ(384)Gly>frameshift2aa-stop p.Gly414fs*2 c.1241del G e-7 homozyg INDIA BL-01 a? Yes No Sumitha E et al. 2013
Bβ(385)
IVS7+1G>T i-7 homozyg ITALY 2 a No No Spena S et al. 2002
IVS7+1G>C i-7 compound PARIS IX h Yes Yes Horellou MH et al. 2006
IVS7+1G>T i-7 compound ITALY, P4 hd No Yes Chinni E et al. 2018
c.1244+1G>A i-7 heterozyg Armenian h Yes No Casini A et al. 2017
9aa 416-424stop OR 15aa 416-43024stop c.1245-17_1262 del OR c.1245-16_1263 del i-7 coumpound KOBE I hd Yoda M et al. 2020
Bβ(386)
Bβ(393)Gln>stop Q423X nt.7893C>T e-8 heterozyg patient A, VICENZA (4 cases) h Yes No Castaman G et al. 2008
Bβ(400)Gly>Arg p.Gly430Arg c.1288G>C e-8 homozyg Iranian, 13 a Yes No Tavasoli B et al. 2020
Bβ(400)Gly>Asp 7915G>A e-8 homozyg afibrinogen MILANO II a Yes No Duga S et al. 2000
“ p.Gly430Asp c.1289G>A e-8 homozyg Iranian, 11 a Yes No Tavasoli B et al. 2020
“ p.Gly430Asp c.1289G>A e-8 homozyg Iranian, 12 a Yes No Tavasoli B et al. 2020
Bβ(401)Gly>Val c.1292C>T e-8 heterozyg KOGARAH (3 cases) hd Yes No Brennan SO et al. 2011
Bβ(402)Trp>stop W432X 7919A>G e-8 heterozyg LYON II (2 cases) h No No Hanss M et al. 2005
Bβ(403)Trp>Leu p.Trp433Leu c.1298G>T e-8 heterozyg Swiss (3 cases) h No No Casini A et al. 2017
Bβ(403)Trp>stop TGG>TAG e-8 heterozyg Japanese h Shinozuka J et al. 2021
“ p.Trp433Stop c.1299G>A e-8 heterozyg NANNING h? Yan J et al. 2021
Bβ(407)Cys>stop c.1311T>A e-8 heterozyg ST KILDA (2 cases) h Yes No Aung NN et al. 2015
Bβ(413)Asn>Ser Asn443Ser c.1328A>G e-8 heterozyg NEW LYNN h Yes No Davis RL et al. 2009
Bβ(413)Asn>Lys p.Asn443Lys c.1329C>G e-8 heterozyg Turkish h Yes No Casini A et al. 2017
Bβ(414)Gly>Ala Gly444Ala c.1331G>C e-8 heterozyg PAPAMOA h Yes Davis RL et al. 2009
Bβ(414)Gly>Ser G444S e-8 compound GENEVA a Yes Yes Vu D et al. 2003
“ e-8 HANNOVER XVIII Yes No Czwalinna A et al. 2002 A
“ e-8 HANNOVER XX No No Czwalinna A 2003 O
“ 9348G>A e-8 heterozyg UNICOV h? No No Kotlín R et al. 2008
Bβ(415)Arg>Thr p.Arg445Thr c.1334G>C e-8 homozyg INDIA BL-267 h Yes No Sumitha E et al. 2013
“ p.Arg445Thr c.1334G>C e-8 homozyg INDIA BL-377 a Yes No Sumitha E et al. 2013
Bβ(419)Gly>frameshift16aa-stop 7972delG e-8 homozyg ANHUI h Yes Xu XC et al. 2006
Bβ(434)Gly>Asp 8017G>A e-8 homozyg MUMBAI h Yes Monaldini L et al. 2006
“ p.Gly464Asp c.G1391A e-8 homozyg INDIA P6 a Yes Yes Mukaddam A et al. 2015
Bβ(437) W467X TGG>TAG e-8 homozyg PALESTINIAN (2cases) a Yes No Neerman-Arbez M et al. 2003
Bβ(437)Trp>Gly 8025T>G e-8 homozyg IRAN 2 a Yes Spena S et al. 2003
Bβ(440)Trp>stop 8035G>A e-8 heterozyg MOUNT EDEN h Yes No Homer VM et al. 2002
Bβ(442)Gly>Val p.Gly472Val c.1415G>T e-8 homozyg PORTUGUESE h No Yes Casini A et al. 2014
Bβ(444) (p.Trp474Ter) c.1421G>A e-8 heterozyg MARTIN IV h Yes No Simurda T et al. 2020
” (p.Trp474*) c.1421G>A e-8 heterozyg HUNGARY 26 h yes Yes Gindele R et al. 2021
Bβ(448)Arg>Lys p.R478K e-8 non synonymous polymorphism Baumann RE et al. 1993
Bβ(455)Arg>Lys p.Arg485Lys e-8 heterozyg USA 23 h Yes No Smith N et al. 2018
Bβ(462)extension 12aa-stop TAG>AAG e-8 heterozyg OSAKA VI Yes No Sugo T et al. 2000
” p.ter492Glnext*12 c.1474T>C e-8 heterozyg TAIWAN 2 and 3 (n=4) d No No Shen MC et al. 2021
” p.ter492Glnext*12 c.1474T>C e-8 heterozyg TAIWAN 4 (n=2) d Yes Yes Shen MC et al. 2021
“ X492Trp ext12aa-Stop 8101A>G e-8 heterozyg MAGDEBURG II d Yes No Franke K et al. 2002 A
“ X492Trp ext12aa-Stop c.1475A>G e-8 heterozyg SEOUL d? No No Woo HI et al. 2012
“ TAG>TGG e-8 heterozyg KYOTO VI Yes No Okumura N et al. 2012
Bβ(462)Ter>Gln ext Ter492Gln e-8 Italian (5 cases) hd Yes No Castaman G et al. 2019

NOTES :
Column 7 : « a »: afibrinogenemia; « d » :dysfibrinogenemia; « h »: hypofibrinogenemia; « hd »: hypodysfibrinogenemia; « ? »: lack of evidence
Column 11 : « 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

 

Last update : 31/12/2021 – release 53
GenBank access number : NG_008834.1

Abnormality
Plasma protein N-26 Native protein N Gene (as reported) e-i Gene status Name / Origin Type Haemorraghes Thromboses Authors
γ(-1)
IVS1+5G>A i-1 homozyg PAKISTANI a Yes No Asselta R et al. 2000
IVS1+5 G>C i-1 heterozyg BELCHATOW h Yes No Wypasek E et al. 2019
γ(+1)
g.194delA e-2 homozyg MOROCCO C2 a Neerman-Arbez M et al. 2001
γ(15)
IVS2+1G>A i-2 & WAIKATO h Yes No Wyatt J et al. 2000
g.2018G>A (IVS2+1G>A) i-2 homozyg IRAN P3 a Yes No Asselta R et al. 2015
IVS2-3C>T i-2 homozyg PAKISTANI B2 a Neerman-Arbez M et al. 2001
IVS2-3C>G i-2 homozyg AMIENS a Yes No Malaquin S et al. 2016
IVS2-2A>C i-2 heterozyg ZAKOPANE h No No Wypasek E et al. 2019
IVS2-1G>A i-2 homozyg Iraqui (2 cases) a Yes Yes Rottenstreich A et al 2016
γ(16)
c.123+9T>A e-3 compound INDIA P2 d Yes Mukaddam A et al. 2015
γ(16)Gly>Ser p.Gly42Ser c.124G>A e-3 heterozyg KRAKOW III d Yes No Pietrys D et al. 2011
γ(21)Thr>Ile c.140C>T e-3 heterozyg ZLIN (2 cases) h No No Riedelova-Reicheltova Z et al. 2014
“ p.Thr47Ile c.140C>T e-3 compound ITALY, P4 hd No Yes Chinni E et al. 2018
γ(23)Cys>stop γ(49)Cys>X c.147delT147_149insACA e-3 heterozyg SHIZUOKA III h Soya K et al. 2013
γ(55)Ser>frameshift5aa-stop p.Ser81fs*5 c.243delA e-3 homozyg INDIA BL-379 a Yes No Sumitha E et al. 2013
γ(66)Leu>Phe (p.Leu92Phe) c.274C>T e-3 nsp Yan J et al. 2021
γ(76)
IVS3+5G>A i-3 homozyg NAPOLI a Yes No Margaglione M et al. 2000
IVS3-2A>G i-3 compound MATSUMOTO IX h No No Terasawa F et al. 2010
g.2394A>G (IVS3+4A>G) i-3 heterozyg ITALY P18 h? No No Asselta R et al. 2015
γ(77)
γ(78)Met c.311_312del e-4 compound INDIA P2 d Yes Mukaddam A et al. 2015
γ(82)Ala>Gly e-4 HANNOVER XVII Yes No Czwalinna A et al. 2002 A
“ e-4 HANNOVER XXVI h Czwalinna A 2004 O
“ e-4 HANNOVER XXVII h Czwalinna A 2004 O
“ c.323C>G e-4 FRANKFURT XIV h No No Ivaskevicius V et al. 2005
“ c.323C>G e-4 FRANKFURT XV h No No Ivaskevicius V et al. 2005
“ e-4 compound WAIKATO h Yes No Wyatt J et al. 2000
“ GCT>GGT e-4 DUNEDIN h Yes No Brennan SO et al. 2000
“ 778C>G e-4 heterozyg NEW ZEALAND 1 h Brennan SO et al. 2006
“ “ e-4 “ NEW ZEALAND 2 h Yes Brennan SO et al. 2006
“ “ e-4 “ AUSTRALIA h Yes Brennan SO et al. 2006
“ “ e-4 “ GERMANY h Yes Brennan SO et al. 2006
“ C2525G e-4 compound LEIPZIG II hd Yes No Meyer M et al. 2007
“ e-4 heterozyg Polish h Yes Zdziarska J et al. 2009
“ p.Ala108Gly e-4 heterozyg USA 4 d No No Smith N et al. 2018
“ p.A108G e-4 heterozyg CORDOBA h No Yes (note2) Guglielmone HA et al. 2019
γ(85)Lys>stop p.Lys111X c.331A>T e-4 heterozyg POZNAN (3 cases) h Yes Zawilska K et al. 2010
“ p.Lys111X e-4 compound USA 3 a Yes Yes Smith N et al. 2018
γ(98)Ala>Lys Ala124Lys c.370_371delGCinsAA GCT>AAT e-4 heterozyg TAIWAN 5 d Yes No Shen MC et al. 2021
γ(105)Ile>Thr Ile131Thr e-4 Italian d Yes No Castaman G et al. 2019
γ(108)Arg>stop γ(134)Arg>X G804C>T e-4 homozyg LEBANON (10 cases) a Yes Neerman-Arbez M et al. 2004
γ(108)
γ(109)
γ(114)Tyr>His Y140H T>C e-5 compound SAN DIEGO II Yes Morris TA et al. 2009
“ c.418T>C e-5 compound MICHIGAN (3 cases) hd Yes Yes Brennan SO et al. 2013
γ(124)Leu>stop Leu150X c.448delC e-5 homozyg FRANCE a Yes Neerman-Arbez M et al. 2007
γ(124)Leu p.150 c.449_464del e-5 homozyg INDIA P3 h Yes Mukaddam A et al. 2015
γ(139)Cys>Tyr e-5 PRETORIA Matsuda M et al. 1999 A
γ(139)Cys>Arg p.Cys165Arg c.493T>C e-5 compound BAISE h Yes No Zhou W et al. 2018
γ(151)
i-5
γ(152)
γ(152)del-end del47645-62872 e-6 THAILAND a Duga S et al. 2003 A
γ(153)Cys>Arg e-6 MATSUMOTO IV h No No Terasawa F et al. 1999
γ(159)Lys>frameshift13aa-stop p.Lys185fs*13 c.554del A e-6 homozyg INDIA BL-80 a Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554del A e-6 homozyg INDIA BL-176 a? Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554del A e-6 homozyg INDIA BL-219 a? Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554delA e-6 homozyg INDIA BL-228 h? Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554del A e-6 homozyg INDIA BL-239 a? Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554del A e-6 homozyg INDIA BL-248 a? Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554delA e-6 homozyg INDIA BL-375 a Yes No Sumitha E et al. 2013
“ p.Lys185fs*13 c.554delA e-6 homozyg INDIA BL-556 a Yes No Sumitha E et al. 2013
γ(165)Gly>Arg GGG>AGG e-6 HANNOVER XIV h Yes No Czwalinna A et al. 2001 A
“ 4682G>A e-6 MILANO XII No No Bolliger-Stucki B et al.2001
“ e-6 HANNOVER XXI No No Czwalinna A 2003 O
ɣ(165)Gly>Val p.Gly191Val c.572G>T e-6 heterozyg ITALY, P7 h No No Chinni E et al. 2018
γ(181)Tyr>Cys Tyr207Cys c.620A>G e-6 heterozyg MULTINATIONAL (3 cases) d Yes Yes Casini A et al. 2015
γ(196)
IVS6+23T>A (c.666+23T>A) i-6 homozyg BEJA h Yes Yes Amri Y et al. 2020
IVS6-320A>T g.5438A>T i-6 homozyg Afibrinogen VICENZA (2 cases) a Yes Yes Spena S et al. 2007
IVS6-320A>T g.5838A>T i-6 heterozyg VENETO h No Yes Plate M et al. 2009
del 5716_5892 i-6 heterozyg POZNAN II d Yes No Wypasek E et al. 2019
ISV6-12A>G i-6 compound USA 3 a Yes Yes Smith N et al. 2018
c.667-1G>C i-6 homozyg SAO PAULO a Yes No Virmond et al. 2020
γ(197)
γ(197)Arg>stop R223X e-7 homozyg PUERTO RICO, A4 a Neerman-Arbez M et al. 2001
“ R223X e-7 homozyg HISPANIC a Yes Yes Fuchs RJ et al. 2007
γ(200)Gly>Val c.677G>T e-7 heterozyg COLUMBUS h Yes Davis RL et al. 2007
“ c.677G>T e-7 heterozyg Syrian (4 cases) h ? ? Rottenstreich A et al 2016
γ(204)Phe>Val 5529T>C e-7 heterozyg HRANICE h No No Kotlin R et al. 2014
γ(208)Trp>Leu g.5792G>T e-7 heterozyg WENZHOU (4 cases) h No No Zhu L et al. 2014
ɣ(208)Trp>Arg Trp234Arg e-7 Italian d No No Castaman G et al. 2019
γ(211)Tyr>His c.709T>C e-7 compound CAVERSHAM (2 cases) h Yes No Brennan SO et al. 2015
γ(213)Glu>Ala p.Glu239Ala c.A716C e-7 homozyg INDIA P9 d Yes Mukaddam A et al. 2015
γ(216)Gly>Glu c.725G>A e-7 heterozyg CARACAS (2 cases) h No No Marchi R et al. 2016
“ p.Gly242Glu c.725G>A e-7 heterozyg French Basque h yes No Bauduer F et al. 2018
γ(227)Trp>Cys W253C TGG>TGT e-7 BRATISLAVA h Yes No Vu D et al. 2005
γ(228)Leu>Leu c.760C>T e-7 compound BRISBANE h Yes Yes Brennan SO et al. 2016
γ(229)Gly>Glu c.764G>A e-7 compound BRISBANE h Yes Yes Brennan SO et al. 2016
γ(230)Asn>His N256H 5857A>C e-7 heterozyg LYON IV h No No Hanss M et al. 2005
γ(230)Asn>Asp AAT>GAT e-7 MIDDLEMORE h Yes No Brennan SO et al. 2005
γ(230)Asn>Lys p.Asn256Lys g.5859T>G e-7 heterozyg PIACENZA P2 hd Yes No Asselta R et al. 2015
γ(231)Glu>stop 5860G>T e-7 homozyg HAKATA a Iida H et al. 2000
γ(232)Lys>Thr g.5864 A>C e-7 heterozyg WENZHOU (5 cases) h Yes No Zhu L et al. 2014
“ 5864 A>C e-7 heterozyg CHINA (5 cases) h Wang Y et al. 2015
γ(239)Gln>His CAG>CAT e-7 VICENZA Yes No Castaman G et al. 2005
ɣ(249)Glu>stop p.Glu275Stop c.823G>T e-7 heterozyg MARTIN III h No Yes Simurda T et al. 2019
γ(252-253)Asp> frameshift17aa-stop p.Asp278-279 fs*17 c.834_835del CT e-7 homozyg INDIA BL-474 a Yes No Sumitha E et al. 2013
γ(253)Trp>Cys Trp279Cys c.837G>C e-7 heterozyg MULTINATIONAL d No Yes Casini A et al. 2015
γ(253)Trp>Gly c.835T>G e-7 homozyg DARLINGHURST h Yes Yes Shen CR et al. 2006
γ(258)
c.851+1G>A i-7 homozyg INDIA BL-478 a Yes No Sumitha E et al. 2013
γ(258)
γ(262)Tyr>Cys 7187A>G e-8 heterozyg LIBEREC Yes No Kotlín R et al. 2008
γ(268)Gly>Glu GGA>GAA e-8 KURASHIKI No No Niwa K et al. 1996
γ(275)Arg>Cys e-8 BALTIMORE IV No No Schmelzer CH et al. 1989
“ C823T e-8 heterozyg BELLINGHAM (7 cases) d No Yes Linenberger ML et al. 2000
“ e-8 BOLOGNA No Yes Haverkate F et al. 1995
“ 7475C>T e-8 heterozyg CEDAR RAPIDS No Yes Siebenlist KR et al. 2000
“ CGC>TGC e-8 FUKUSHIMA No No Imafuku Y et al. 2002
“ CGC>TGC e-8 HANNOVER IV Yes No Meyer M et al. 2000 A
“ CGC>TGC e-8 HANNOVER IX Czwalinna A et al. 2001 A
“ CGC>TGC e-8 HANNOVER X Czwalinna A et al. 2001 A
“ e-8 HANNOVER XXX Czwalinna A 2004 O
“ e-8 compound HERSHEY IV Yes No Flood VH et al. 2008
“ p.Arg301Cys e-8 heterozyg LEUVEN (5 cases) d No Yes Jacquemin M et al. 2017
“ CGC>TGC e-8 heterozyg MATSUMOTO III No No Terasawa F et al. 1999
“ CGC>TGC e-8 MILANO V No No Steinmann C et al. 1994
“ e-8 heterozyg MORIOKA No No Terukina S et al. 1987 A
“ CGC>TGC e-8 heterozyg OSAKA II d No No Terukina S et al. 1987/1988
“ e-8 heterozyg PORTLAND Yes No Rein CM et al. 2010
“ CGC>TGC e-8 heterozyg SENDAI Kamijyo Y et al. 2009
“ e-8 TOCHIGI No No Yoshida N et al. 1988
“ e-8 TOKYO II No No Yamazumi K et al. 1988
“ CGC>TGC e-8 VILLAJOYOSA No Yes Borrell M et al. 1995
“ p.Arg301Cys c.901C>T e-8 heterozyg UNITED KINGDOM d No No Shapiro SE et al. 2013
“ c.901C>T e-8 BELGIUM d No No Depoorter M et al. 2014
“ Arg301Cys c.902G>C e-8 heterozyg MULTINATIONAL (33 cases) d Yes Yes Casini A et al. 2015
“ e-8 heterozyg SOUTH ITALY D6-8 (6 cases) d No No Santacroce R et al. 2006
“ Arg301Cys CGC>TGC e-8 heterozyg CHINA P1 (2 cases) d Yes No Bin Q et al. 2015
“ p.Arg301Cys g.10818C>T e-8 CHINESE (13 cases) d Yes No Zhou J et al. 2015
“ Arg301Cys e-8 Italian (2 cases) d No No Castaman G et al. 2019
“ p.Arg301Cys e-8 P14 d No No Marchi R et al. 2021
“ p.Arg301Cys e-8 P15 d Yes No Marchi R et al. 2021
“ p.Arg301Cys c.901C>T e-8 heterozyg IRAN 4 d Yes No Mohsenian S et al. 2021
“ p.Arg301Cys c.901C>T e-8 heterozyg IRAN 9 d Yes No Mohsenian S et al. 2021
“ p.Arg301Cys c.901C>T e-8 heterozyg IRAN 10 d Yes No Mohsenian S et al. 2021
“ p.Arg301Cys c.901C>T e-8 heterozyg IRAN 11 hd Yes No Mohsenian S et al. 2021
“ c.901C>T e-8 heterozyg CHINA 12 d No No Zhou P et al. 2021
“ c.901C>T e-8 heterozyg CHINA 13 d No No Zhou P et al. 2021
γ(275)Arg>His CGC>CAC e-8 BARCELONA III No Yes Borrell M et al. 1995
“ e-8 BARCELONA IV No No Borrell M et al. 1995
“ e-8 BERGAMO II No Yes Reber P et al. 1986
“ e-8 heterozyg CHINESE Ouyang Q et al. 2011
“ e-8 CLARO No No Steinmann C et al. 1996
“ 7476G>A e-8 heterozyg CORDOBA Yes No Guglielmone HA et al. 2008
“ Arg301His e-8 heterozyg CRETE (3 cases) No No Travlou A et al. 2010
“ e-8 ESSEN No No Reber P et al. 1986
“ e-8 HAIFA No Yes Kehl M et al. 1984
“ CGC>CAC e-8 heterozyg IIDA Kamijyo Y et al. 2009
“ e-8 OSAKA III No No Yoshida N et al. 1992
“ CGC>CAC e-8 heterozyg OTSU II Kamijyo Y et al. 2009
“ e-8 PERUGIA No No Reber P et al. 1986
“ e-8 SAGA Yes No Yamazumi K et al. 1988
“ CGC>CAC e-8 heterozyg SHIZUOKA Kamijyo Y et al. 2009
“ C>A e-8 SURESNES Mathonnet F et al. 1999 A
“ g.5678G>A e-8 SHANGAI Fang Y et al. 2005
“ 7476G>A e-8 heterozyg BRNO Yes No Kotlín R et al. 2008
“ c.902G>A e-8 heterozyg ZABRZE No No Undas A et al. 2010
“ p.Arg301His c.902G>A e-8 heterozyg UNITED KINGDOM (3 cases) d Yes No Shapiro SE et al. 2013
“ p.Arg301His c.902G>A e-8 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
“ p.Arg301His c.902G>A e-8 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
“ Arg301His c.902G>A e-8 heterozyg MULTINATIONAL (19 cases) d Yes Yes Casini A et al. 2015
“ p.Arg301His g.10819G>A e-8 CHINESE (20 cases) d Yes No Zhou J et al. 2015
“ g.7476G>A e-8 heterozyg CHINESE d Jiang L et al. 2018
“ p.Arg301His e-8 heterozyg USA 5, USA 6 d No Yes Smith N et al. 2018
“ p.Arg301His e-8 heterozyg USA 7 d No Yes Smith N et al. 2018
“ p.Arg301His e-8 heterozyg USA 8 d No No Smith N et al. 2018
“ p.Arg301His e-8 heterozyg USA 9 d Yes No Smith N et al. 2018
“ p.R301H c.902G>A e-8 heterozyg BEIJING, P2 d No No Cao Z et al. 2019
“ Arg301His e-8 Italian (2 cases) d No Yes Castaman G et al. 2019
“ p.(Arg301His) c.902 G>A e-8 heterozyg SURESNES VI (2 cases) d No No Vasse M et al. 2019
“ p.Arg301His e-8 P10 d No note 3 Marchi R et al. 2021
“ p.Arg301His e-8 P11 d Yes note 3 Marchi R et al. 2021
“ p.Arg301His e-8 P12 d Yes note 3 Marchi R et al. 2021
“ p.Arg301His e-8 P13 d Yes note 3 Marchi R et al. 2021
“ c.902 G>A e-8 heterozyg CHINA 9 d Yes No Zhou P et al. 2021
“ c.902 G>A e-8 heterozyg CHINA 10 d No Yes Zhou P et al. 2021
“ c.902 G>A e-8 heterozyg CHINA 11 d Yes No Zhou P et al. 2021
“ p.Arg301His c.902 G>A e-8 heterozyg HUNGARY 16 d Yes No Gindele R et al 2021
“ p.Arg301His c.902 G>A e-8 heterozyg HUNGARY 17 d No No Gindele R et al 2021
“ p.Arg301His c.902 G>A e-8 heterozyg HUNGARY 18 d Yes No Gindele R et al 2021
“ p.Arg301His c.902 G>A e-8 heterozyg HUNGARY 19 d No No Gindele R et al 2021
γ(275)Arg>Ser CGC>AGC e-8 KAMOGAWA No No Mimuro J et al. 1999
γ(277)Thr>Arg 7482G>C e-8 heterozyg WENZHOU (3 cases) h No No Zhu L et al. 2013
γ(277)Thr>Pro p.Thr303Pro g.7481A>C e-8 compound FINLAND P21 (4 cases) h Yes Yes Asselta R et al. 2015
γ(278)Tyr>His Tyr304His TAT>CAT e-8 heterozyg HIROSHIMA h Yes No Kamijo T et al. 2021
γ(279)Ala>Asp GCC>GAC e-8 heterozyg AUCKLAND d Yes No Brennan SO et al. 2000
“ Ala305Asp e-8 Italian (3 cases) d Yes No Castaman G et al. 2019
γ(280)Tyr>Cys TAC>TGC e-8 heterozyg BANKS PENINSULA d Yes No Fellowes AP et al. 1998
“ Tyr306Cys c.917A>G e-8 heterozyg MULTINATIONAL (2 cases) d No Yes Casini A et al. 2015
γ(281)Phe>Leu c.921C>G e-8 heterozyg CHINA 14 d No No Zhou P et al. 2021
γ(284)Gly>Arg GGG>CGG e-8 heterozyg BRESCIA (8 cases) h, fsd Yes No Brennan SO et al. 2000
“ GGG>AGG e-8 heterozyg GERMANY (2 cases) h, fsd Yes No Puls F et al. 2013
γ(289)Ala>Asp p.Ala315Asp e-8 heterozyg USA 10, USA 11 d Yes Yes Smith N et al. 2018
γ(289)Ala>Val GCC>GTC e-8 heterozyg DORFEN (2 cases) h Yes No Dear A et al. 2004
“ GCC>GTC e-8 heterozyg KANAZAWA III (2 cases) hd Yes No Kaido T et al. 2020
γ(289)del3aa delCCTTTGATG e-8 heterozyg CHINESE hd Zhu L et al. 2018
γ(292)Gly>Val GGC>GTC e-8 BALTIMORE Yes Yes Bantia S et al. 1990
“ GGC>GTC e-8 SAINT GALLEN Yes No Stücki B et al. 1999
γ(295)Phe>frameshift40aa-stopVal c.963del frameshift e-8 heterozyg COLUMBUS III h Yes No Abdelghani E et al. 2021
γ(301)Asp>His p.Asp327His g.7553G>C e-8 compound FINLAND P21 (4 cases) h Yes Yes Asselta R et al. 2015
γ(305)Thr>Ala T331A c.1132A>G ? e-8 heterozyg NAGAKUTE hd No No Ikeda M et al. 2014
γ(307)His>Tyr CAT>TAT e-8 heterozyg MANNHEIM II h No No Dear A et al. 2004
ɣ(307)His>Arg p.His333Arg c.998A>G e-8 heterozyg ITALY, P8 h Yes No Chinni E et al. 2018
“ p.His333Arg c.998 A>G e-8 heterozyg ŁODZ d No Yes Treliński J et al. 2019
γ(308)Asn>Ile e-8 heterozyg BALTIMORE III d No No Bantia S et al. 1990
γ(308)Asn>Lys AAT>AAG e-8 heterozyg BICÊTRE II d No Yes Grailhe P et al. 1993
“ AAT>AAG e-8 KYOTO d No No Yoshida N et al. 1988
“ AAT>AAG e-8 heterozyg MATSUMOTO II d Yes No Okumura N et al. 1996
“ AAT>AAG e-8 MATSUMOTO VI No No Terasawa F et al. 2000
“ AAT>AAG e-8 heterozyg NAGANO (2 cases) d No No Kirihara T et al. 2014
γ(308)Asn>Thr c.1001A>C e-8 homozyg HANGZHOU (2 cases) d No No Liao Z et al. 2013
“ p.Asn334Thr g.10918A>C e-8 CHINESE d No No Zhou J et al. 2015
γ(309)Gly>Asp GCC>GAC e-8 HILLSBOROUGH No No Mullin JL et al. 2002
γ(309)Gly>Cys p.Gly335Cys g.10920G>T e-8 CHINESE (2 cases) d No No Zhou J et al. 2015
γ(310)Met>Thr ATG>ACG e-8 heterozyg ASAHI d Yes No Yamazumi K et al. 1989
“ e-8 FRANKFURT VII Yes No Miesbach W et al. 2009
“ e-8 HANNOVER XXIX Czwalinna A 2004 O
“ p.Met336Thr c.1007T>C e-8 heterozyg YECHEON d Yes No Park E et al. 2009
“ 7581T>C e-8 heterozyg TOKUSHIMA II (2 cases) d Yes No Shigekiyo T. et al 2012
γ(313)Ser>Asn 7590G>A e-8 h Meyer M et al. 2006
γ(313)Ser>Arg c.1015A>C e-8 heterozyg DETROIT II hd Yes Brennan SO et al. 2009
γ(313)Ser>Gly 7339A>G e-8 heterozyg PRAHA IV d Yes Yes Kotlin R et al. 2014
γ(313)Ser>Ile 7590G>T e-8 heterozyg CHINESE h Zhu L et al. 2018
γ(314)Thr>Ile 5846C>T e-8 heterozyg KAGOSHIMA hd Yes Niwa K et al. 2007
“ (p.Thr340Ile) c.1019C>T e-8 heterozyg Chinese h? Yes Yes Nie H et al. 2020
γ(314)Thr>Pro c.1018C>A e-8 heterozyg AL DUPONT h, fsd No No Brennan SO et al. 2010
γ(316)Asp>His g.7598G>C e-8 heterozyg WENZHOU h No No Wang Y et al. 2014
γ(316)Asp>Asn p.Asp342Asn c.1024G>A e-8 heterozyg PISA (3 cases) h, fsd No No Asselta R et al. 2015
γ(316)Asp>Gly p.Asp342Gly c.1025A>G e-8 heterozyg UNITED KINGDOM (3 cases) d Yes No Shapiro SE et al. 2013
γ(316)Asp>Glu-(343-344 duplication) p.Asp342Glu;Asn343-Asp344 duplication c.1026C>A1027-1032 duplication e-8 heterozyg ITALY, P10 h Yes No Chinni E et al. 2018
γ(318)Asp>Tyr GAC>TAC e-8 BASTIA No No Lounes KC et al. 1999
γ(318)Asp>Gly e-8 GIESSEN IV Yes Yes Haverkate F et al. 1995
“ A>G e-8 Meyer M et al. 2000 A
γ(318)Asp>Val Asp344Val c.1031A>T e-8 heterozyg CAEN No Yes Robert-Ebadi H et al. 2008
γ(319)Asn>Asp p.Asn345Asp g.7607A>G e-8 heterozyg ITALY P20 h Asselta R et al. 2015
γ(319)Asn>Lys T>A e-8 Meyer M et al. 2000 A
γ(319)Asn del e-8 HANNOVER XXII h Czwalinna A 2004 O
γ(319-320) del AATGAT deleted e-8 VLISSINGEN= FRANKFURT IV No Yes Koopman J et al. 1991
“ deletion e-8 OTSU No No Terasawa F et al. 2003
γ(320)Asp del delGAT e-8 heterozyg DES MOINES (3 cases) hd Yes Yes Brennan SO et al. 2007
“ c.1036-1038 del e-8 compound MICHIGAN (3 cases) hd Yes Yes Brennan SO et al. 2013
γ(320)Asp>Glu p.346 Asp>Glu c.1038T>A e-8 heterozyg WHAKATANE hd Yes No Brennan SO et al. 2015
γ(320)Asp>Gly nt.7611GAT>GGT e-8 heterozyg CHINESE, patient B h No No Castaman G et al. 2008
“ p.346 Asp>Gly c.1037A>G e-8 heterozyg OKAYAMA II hd No No Mukai S et al. 2015
γ(320)Asp>Ala e-8 ATHENS III d No No Galanakis DK et al. 2014
γ(322)Phe>Cys TTT>TGT e-8 VILLEURBANNE No No Hanss M et al. 2000 A
γ(322)Phe>Ile p.Phe348Ile c.1042T>A e-8 heterozyg BEIJING (2 cases) d Yes No Hua B et al. 2015
γ(325)Asn>Ile Asn351Ile c.1052A>T e-8 heterozyg KRAKOW h Yes No Undas A et al. 2009
γ(326)Cys>Ser e-8 CORDOBA Yes No Guglielmone HA et al. 2004
“ 7628G>A e-8 HANNOVER XIII No Yes Czwalinna A et al. 2001 A
“ TGT>TCT e-8 heterozyg TOKAI hd No Yes Ushijima A et al. 2017
“ p.Cys352Ser e-8 heterozyg USA 12 d No Yes Smith N et al. 2018
γ(326)Cys>Tyr G7629A e-8 heterozyg SUHL (2 cases) d Yes Meyer M et al. 2003
“ TGT>TAT e-8 FROSTBURG hd No Yes Dear A et al. 2005
γ(326)Cys>Phe c.1055G>T e-8 heterozyg MELBOURNE (2 cases) hd No Yes Cheah CY et al. 2012
γ(327)Ala>Thr 5884G>A e-8 TOKYO V No Yes Hamano A et al. 2004
γ(327)Ala>Val p.Ala353Val c.1058C>T e-8 heterozyg CHINA d No No Wei A et al. 2021
γ(329)Gln>Arg e-8 NAGOYA No No Miyata T et al. 1989
γ(329)Gln>Lys c.1063C>A e-8 heterozyg CHINA 19 hd Yes No Zhou P et al. 2021
γ(330)Asp>Tyr GAT>TAT e-8 KYOTO III No No Terukina S et al. 1989
γ(330)Asp>Val GAT>GTT e-8 ALES No Yes Lounes KC et al. 2000
“ e-8 MILANO No No Reber P et al. 1986
“ Asp356Val c.1067A>T e-8 heterozyg MULTINATIONAL (3 cases) d Yes No Casini A et al. 2015
“ p.Asp356Val c.1067A>T e-8 heterozyg ITALY, P9 d No Yes (note 1) Chinni E et al. 2018
γ(332)Ser>Cys Ser358Cys c.1073C>G e-8 heterozyg MULTINATIONAL (2 cases) d Yes Yes Casini A et al. 2015
ɣ(333)Gly>Cys p.Gly359Cys c.1075G>T e-8 heterozyg COLUMBUS II hd No Yes Kumar R et al. 2019
γ(335)Trp>Cys e-8 DANVILLE d No Yes Galanakis DK et al. 2014
γ(336)Met>Ile G7660A e-8 heterozyg HANNOVER VI Yes Meyer M et al. 2003
“ e-8 HANNOVER XXIII h Czwalinna A 2004 O
γ(336)Met>Lys (p.Met362Lys) c.1085T>A e-8 heterozyg HUNGARY 27 No Yes Gindele R et al. 2021
γ(337)Asn>Lys e-8 BERN No No Steinmann C et al. 1993
γ(339)Cys>Ser p.Cys365Ser c.1094G>C e-8 heterozyg PEGASUS BAY (2 cases) h Yes No Brennan SO et al. 2015
“ Cys365Asp e-8 Italian hd Yes No Castaman G et al. 2019
γ(339)Cys>frameshift41 p.Cys365Phefs41* c.1094delG e-8 heterozyg BAISE h Yes No Zhou W et al. 2021
γ(340)His>frameshift40 p.His366ThrfsTer40 c.1096delC e-8 homozyg P 14 a Yes No Tavasoli B et al. 2020
γ(340)His>Asn p.His366Asn c.1096C>G e-8 heterozyg ANKARA (2 cases) h, fsd No No Callea F et al. 2017
γ(340)His>Arg c.1097A>G e-8 heterozyg NANCHANG hd No No Peng Y et al. 2020
γ(341)Ala>Thr A367T c.1099G>A e-8 heterozyg LYON III (2 cases) h Hanss M et al. 2007
“ p.Ala367Thr c.1099G>A e-8 heterozyg UNITED KINGDOM d Yes No Shapiro SE et al. 2013
γ(341)Ala>Asp GTC>GAT e-8 heterozyg SEOUL Yes Song KS et al. 2006
γ(341)Ala>Val c.1100C>T e-8 heterozyg TOLAGA BAY h Yes No Davis RL & Brennan SO 2008
“ p.Ala367Val g.11017C>T e-8 CHINESE d No Yes Zhou J et al. 2015
γ(341)Ala>Pro e-8 STONY BROOK VII d Yes No Galanakis DK et al. 2014
ɣ(344)Leu>Phe Leu370Phe e-8 Italian (6 cases) hd Yes No Castaman G et al. 2019
γ(345)Asn>Asp A7685G e-8 heterozyg STUTTGART (2 cases) h No No Meyer M et al. 2003
γ(345)Asn>Ser 7687A>G e-8 heterozyg SAINT GERMAIN II (2 cases) h No Yes de Raucourt E et al. 2005
“ g.7686A>G e-8 heterozyg ITALY, proband 2 h Yes No Platè M et al. 2008
γ(346-350) del g.del7690_7704 e-8 heterozyg ANGERS h, fsd Dib N et al. 2007
γ(350)
c.1129+62_65delAATA i-8 compound TSUKUBA hd No No Mukai S et al. 2017
γ(351)
γ(351)Gly>14aa ins GGT>GTT e-9 PARIS No No Rosenberg JB et al. 1993
γ(351)Gly>Ser GGT>AGT e-9 heterozyg PRAHA h Yes Kotlin R et al. 2007
“ G377S G7703A e-9 compound LEIPZIG II hd Yes No Meyer M et al. 2007
γ(352)Gly>Cys c.1132G>T e-9 compound ILAM (2 cases) h Yes No Brennan SO et al. 2011
γ(353)Thr>Pro c.1135A>C e-9 compound ILAM (2 cases) h Yes No Brennan SO et al. 2011
γ(354)Tyr>Cys A9351G e-9 heterozyg HOMBURG VII Yes Meyer M et al. 2003
γ(357)Ala>Thr e-9 heterozyg FRANKFURT (5 cases) Yes Miesbach W et al. 2009
γ(358)Ser>Cys TCT>TGT e-9 heterozyg MILANO VII (6 cases) d No No Steinmann C et al. 1994
“ Ser384Cys e-9 Italian d No No Castaman G et al. 2019
γ(361)Asn>Lys 9373T>A e-9 POISSY II Mathonnet F et al. 2003
γ(363)Tyr>Asn 9127T>A e-9 heterozyg PRAHA III No Yes Kotlín R et al. 2009
γ(364)Asp>His GAT>CAT e-9 MATSUMOTO No No Okumura N et al. 1996
γ(364)Asp>Val e-9 MELUN No Yes Bentolila S et al. 1995
γ(364)Asp>Asn c.1168G>A e-9 heterozyg CHINA 15 d No No Zhou P et al. 2021
γ(364)Asp>frameshift-stop c.1169_1170delAT e-9 heterozyg OTA h No No Nagata K et al. 2017
γ(365)Asn>Lys Asn391Lys c.1173T>A e-9 heterozyg MULTINATIONAL d Yes No Casini A et al. 2015
γ(366)Gly>Ser p.Gly392Ser c.1174G>A e-9 heterozyg BEOGRAD (3 cases) h, fsd No No Asselta R et al. 2015
γ(367)Ile>Thr c.1178T>C e-9 heterozyg CHINESE d Yes No Luo S et al. 2020
γ(369)Trp>Leu p.Trp395Leu g.12739G>T e-9 CHINESE (2 cases) d Yes No Zhou J et al. 2015
γ(371)Thr>Ile ACT>ATT e-9 MUNCIE h Yes Brennan SO et al. 2001
“ e-9 TRABZON fsd, h? No No Burcu G et al. 2020
γ(375)Arg>Gly e-9 OSAKA V No No Yoshida N et al. 1992
γ(375)Arg>Trp CGG>TGG e-9 AGUADILLA (3 cases) h, fsd Brennan SO et al. 2002
“ CGG>TGG e-9 GENEVA h Rubbia-Brandt L et al. 2006
“ p.Arg401Trp c.1201C>T e-9 heterozyg GENEVA II h, fsd Casini A et al. 2015
“ c.1201C>T e-9 heterozyg ITALIAN h Francalanci P et al. 2006
“ R401W C>T e-9 compound SAN DIEGO h Yes Morris TA et al. 2009
“ e-9 heterozyg Japanese (2 cases) h Sogo T et al. 2009
“ p.Arg401Trp g.9413C>T e-9 heterozyg ITALY P17 h No No Asselta R et al. 2015
“ CGG>TGG e-9 heterozyg GERMANY (6 cases) h, fsd No No Puls F et al. 2013
“ p.Arg401Trp c.1201C>T e-9 heterozyg TURKEY (5 cases) h, fsd No No Sari S et al. 2015
“ e-9 heterozyg TURKEY h, fsd No No Callea F et al. 2017
“ p.Arg401Trp c.1201C>T e-9 heterozyg SWITZERLAND (3 cases) h Yes Yes Casini A et al. 2015
“ e-9 heterozyg SOUTH ITALY H3 h No No Santacroce R et al. 2006
” p.Arg401Trp c.1201C>T e-9 heterozyg Chinese fsd, h No No Gu L et al. 2020
ɣ(375)Arg>Leu p.R401L c.1202G>T e-9 heterozyg BEIJING, P3 d No No Cao Z et al. 2019
γ(376)Trp>stop γ(402)Trp>X c.1205G>A e-9 heterozyg KANAZAWA II h Soya K et al. 2013
γ(378)Ser>Pro TCC>CCC e-9 PHILADELPHIA hd Yes No Keller MA et al. 2005
γ(380)Lys>Asn AAG>AAT e-9 KAISERSLAUTERN No Yes Ridgway HJ et al. 1997
γ(387)Ile>frameshift-stop g.7651 delA e-9 heterozyg MATSUMOTO VII h No No Fujihara N et al. 2010
γ(407)
IVS9-154T>C i-9 compound MONTREAL h Yes No Campbell R et al. 2006
p.Val434Serfs*29 g.IVS9+1delG i-9 heterozyg CHINESE (4 cases) d Yes No Huang D et al. 2015
γ(408)
γB(408)Arg>frameshift-stop p.R435fs* c.1299+4delA compound TSUKUBA hd No No Mukai S et al. 2017
γ(411)Val>Ile compound HERSHEY IV Yes No Flood VH et al. 2008

NOTES :
Column 7 : « a »: afibrinogenemia; « d »: dysfibrinogenemia; « h »: hypofibrinogenemia; « hd »: hypodysfibrinogenemia; « m »: amyloidosis; « fsd »: fibrinogen storage disease; « ? »: lack of evidence
Column 11 : « A » in case of observation mentioned in a congress abstract, « L » in a book chapter, « O » for on-line submissionThe first author of the team reporting the molecular abnormality is mentioned

1 : post-partum DIC

2 : compound heterozygote for protein C deficiency

3: one of the patients P10, P11, P12 and P13 presents with thromboembolism

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