Human fibrinogen database
Last update : 31/12/2021 - release 53
GenBank access number : NG_008832.1
Abnormality | ||||||||||
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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