F XI Deficiency Mutation Database^©

• Records for mutations can be retrieved using any combination of the following search criteria
• If nothing is entered for domain and codon the search will return mutations over the entire range of FXI protein
• Codons are numbered with respect to the mature protein - with codon 1 representing the first residue (Glu) after the signal peptide.

Codon:	(from)		(to)
Domain:
Initial Residue:	Ala Arg Asn Asp Cys Gln Glu Gly His Ile Leu Lys Met Phe Pro Ser Thr Trp Tyr Val	Mutant Residue:	Ala Arg Asn Asp Cys Gln Glu Gly His Ile Leu Lys Met Phe Pro Ser Thr Trp Tyr Val
Reference:	Alhaq 2000 Mitchell 2003 Alhaq 2000 and Mitchell 2003 Alhaq et al 199 Alhaq et al 1999 Alhaq et al 2000 Asakai et al 1989 Asakai et al 1989 Asakai et al 1989 Asakai et al 1989 Au et al 2003 Bodfish et al 1991 Bolt on-Maggs et al 2004 Bolton-Mag gs et al 2004 Bolton-Maggs et al 1999 Abstract Bolton-Maggs et al 2003 Abstract Bolton-Maggs et al 2004 Bozzao C et al 2007 Bozzao C et al 2007 Butler & Parsons 1990 Cargill et al 1999 Castaman G 2008 Castaman G et al 2005 Castaman G et al 2005 ISTH Poster Abstract Castaman G et al 2007 (Abstract) Castaman G et al 2007 (ISTH Poster Castaman G et al 2008 Castaman G et al 2008 Dai et al 2004 Dossenbach-Glaninge r et al 2002 Ab Dossenbach-Glaninger & Hopmeier 200 Dossenbach-Glaninger & Hopmeier 2003 Dossenbach-Glaninger & Hopmeier 2006 Dossenbach-Glaninger and Hopmeier 2 Dossenbach-Glaninger et al 2001 Dossenbach-Glaninger et al 2001 Duncan EM et al 2008 Duncan EM et al 2008 Fard-Esfahani P et al 2008 Fard-Esfahani P et al 2008 Gailani 2001 et al Abstract B Gailani D et al 2007 Gailani et al 2001 Abstract B Gailani et al 2001 Abstra ct B Gailani et al 2001 Abstract Gailani et al 2001 Abstract B Germanos-Haddad et al 2003 Germanos-Haddad et al 2005 Guella I et al 2008 Guella I et al 2008 Hatskelzon et al 1996 Hayashi et al 1997 Abstr act Hill et a l 2005 Hill et al 2005 Ho DH et al 2000 Hopmeier et al. J Lab Med 2004;28(2 Iijima et al 2000 Imanaka et al 1995 Ishikawa N et al 2007 Ishikawa N et al 2007 Jayandharan et al 2005 Karimi M et al 2009 Kawaguchi et al 2000 Kravtso v et al 2004 Kravtsov et al 2004 Kravtsov et al 2005 Kuroda K et al 2005 Kuroda K et al 2005 (Abstract) Kwon MJ et al 2008 Martincic et al 1998 Mathonet et al 1999 Abstract McVey et al, 2005 Meijers 1992 Meijers et al 1992 Mitchell MJ et al 2007 Mitchell et al 1999 Mitchell et al 2003 Mitchell et al 2004 Mitchell et al., 2006 Mitchell et al., 2006} Morishita et al 2003 Abstract Neerman-Arbez M et al 2007 Neerman-Arbez et al 2007 Neerman-Arbez et al 2007 O'Connell et al 2005 Okumura K et al 2006 Okumura K et al 2006 Patient has a bleeding Hx Peretz H et al 1996 Peretz et al 1996 Peretz et al 1997 Pugh et al 1995 Quel in et al 2004 Quelin F et al 2006 Quelin F et al 2009 Quelin et al 2004 Quelin et al 2009 Quelin et al, 2006 Quelin et al, 2006 Quelin et al., 2005 Ramadan KM et al 2006 Ramadan KM et al 2006 Sata et al., 2007 Sato et al 2000 Saunders RE et al 2009 Saunders RE et al 2009 - In Press Schmidt et al 2004 Solda et al, 2005 Spena S et al 2009 Sun et al 2001 Takamiya et al, 2005 Tarumi et al 2003 Tsukahara et al 2003 Vasileiadis I et al 2009 Ventura et al 2 000 Ventura et al 2000 Wang J et al 2009 Wistinghausen et al 1997 Wu et al 2003 Abstract Wu et al 2004 Abstract Xie et al, 2005 Zacharski 1978 Zadra et al, 200 4 Zadra et al, 2004 Ziveli n et al 2002 Zivelin et al 2002 Zivelin et a l 2002 Zivelin et al 1999 Abstract Zivelin et al 2001 Abstract Zivelin et al 2002 Zivelin et al 2002 Zivelin et al 2004 Zivelin et al., 1999 Abstract 2 Zucker M et al 2007 Zucker M et al 2007 de Moerloose et al 2004 de Raucourt E et al 2008 de Raucourt E et al 2008
Nucleotide:	c.-54G>A c.-2+120G>A c.-1-231T>C c.-1-198T>G c.-1-138C>A c.-1-403G>T c.-1-273C>G c.3G>T c.15T>A c.44C>T c.52G>C c.56-1209dupCA c.55G>T c.55+6T>G, +10insAG c.67C>T c.73-86del 78-80delGGA c.100G>C c.113T>C c.122C>T c.122C>A c.126C>G c.137G>T c.141G>C c.152C>T c.151A>C c.157C>T c.166T>C c.168T>A c.168T>G c.192_193insG c.197C>T c.209C>T c.214C>T 215G>C c.218+126A>G c.218+2T>A c.224C>T c.227G>A c.227G>T c.226G>C c.259C>A c.290G>C c.296C>A c.301_307dupAAGCAAT c.302A>G c.316C>T c.325+1G>A c.325G>A c.328T>G c.359T>C c.365G>A c.400C>T c.403G>T c.408C>A c.419G>A c.422C>T c.429C>T c.434A>G c.438C>A c.449C>T c.452A>C c.452C>A c.454G>C c.485+5G>C c.486-2A>G c.486-431G>A c.485+23G>C c.486-361C>T c.484C>T c.521G>A c.569T>C c.595+3A>G c.596C>T c.599G>A c.604A>G c.616T>C c.644-649delTCGACA c.646G>A c.682C>T c.688T>C c.688T>A c.716T>C c.717insT c.728C>T c.731A>G c.730C>T c.738G>C c.738G>A c.751C>T c.755G>T c.756A>T c.755G c.764G>A c.769delC c.783G>C c.788G>A c.797G>A c.801A>G c.802C>T c.803G>A c.809A>T c.829G>A c.841C>T c.861C>T c.865G>T c.865+2delAAACTGAGAGT c.901T>C c.907delG c.918delG c.922A>T c.924T>C c.933-951dupAAAAAGTCACGAGGCCTG c.943G>A c.943G>T c.959T>C c.961_962delTG c.965C>T c.973G>T c.976C>T c.981C>A c.992C>T c.1016G>T c.1021G>A c.1026G>T c.1026dupG c.1028+5G>T c.1029-2A>G c.1060G>A c.1072delA c.1077A>G c.1079T>C c.1084 c.1103G>C c.1103G>A c.1102G>A c.1107C>A c.1106A>C c.1118T>C c.1120T>C c.1135+5G>A c.1135+1G>A c.1136-4delGTTG c.1165G>A c.1169G>C c.1178C>T c.1132C>T c.1191T>C C.1196G>T c.1195T>C c.1199C>T c. 1202G>A c.1211C>A c.1217A>C c.1219A>C c.1222A>C c.1247G>A c.1253G>T c.1252G>A c.1255T>G c.1270C>T c.1275G>C c.1283C>T c.1289C>T c.1288G>A c.1288G>T c.1304+12G>A c.1305-10T>A c.1327C>T c.1334A>G c.1336A>G c.1394C>G c.1378T>G c.1393G>T c.1432G>A c.1478C>T c.1480+2T>G c.1482T>A/G c.1489C>T c.1500C>G c.1498T>C c.1507T>C c.1531T>C c.1545G>T c.1546G>A c.1557G>C c.1556G>A c.1556insG c.1560dupG c.1574-93dupAT c.1608G>C c.1613C>T c.1634G>A c.1684G>A c.1693G>A c.1704C>T c.1714_1716+11del c.1716+1G>A c.1717-48A>G c.1718G>A c.1717-2A>G c.1721A>G c.1742G>T c.1760G>C c.1778C>T c.1782C>A c.1786G>A c.1789G>A c.1797T>A c.1812G>T c.1824C>A c.1822T>C c.1832T>G c.1839G>A c.1849T>G c.1853T>C 1856T>C 31.5KbDeletion Exons 11-15 deletion
Ethnic Background:	African African American Arab Ashkenazi Jewish Australian Austrian Bedouin Belgic Bucharian-Jewish Caucasian Chinese Czech English English/Irish European French French Basque French Basque/Jewish French Basque/Non Basque German Hispanic Indian Iranian Irish Israeli Arab Italian Italian and Czechoslovakian Japanese Jewish Lebanese Moroccan Morrocan Nantes Non-Ashkenazi Jewish Non-Jewish North European Caucasian Portgugese Portugese Portuguese Scottish Scottish/English Tunisian UK population US Yemenite Jewish
Phenotype: Any Type I Type II Unknown Genotype: Any Het Hom CH FXI Deficiency: Any Mild Severe Reference Type: Full Citation Abstract Only No Reference Mutation Type: Missense Nonsense Insertion Deletion Splice Site Polymorphism