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Last update

21/6/2017

Gene: Coagulation factor XI; F11

Gene Symbol: F11
OMIM: 264900
Chromosome location: 4q35.2

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Factor XI deficiency || c.166T>C (209T>C)

Phenotype:	Factor XI deficiency
Dna Change:	c.166T>C (209T>C)
Protein Change:	p.Cys56Arg (Cys38Arg)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_000128.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	Jews	Basque	8 families/12 unrelated families	NA	Zivelin A et al., 2002Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U, . Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.. Blood. 2002; 99(7):2448-54

Factor XI deficiency || c.1361T>A

Phenotype:	Factor XI deficiency
Dna Change:	c.1361T>A
Protein Change:	p.Ile454Lys (Ile 436 Lys)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 12
Transcript:	NM_000128.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Northeastern	6 patients/4 unrelated families	NA	Girolami A et al., 2012Girolami A, Scarparo P, Bonamigo E, Santarossa L, Cristiani A, Moro S, Lombardi AM, . A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.. Eur. J. Haematol.. 2012; 88(3):229-36

References

Girolami A, Scarparo P, Bonamigo E, Santarossa L, Cristiani A, Moro S, Lombardi AM, A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.Eur. J. Haematol.. 2012; 88(3):229-36

Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U, Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.Blood. 2002; 99(7):2448-54

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: Coagulation factor XI; F11

References