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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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Last update

21/6/2017

Phenotype: Factor XI deficiency

OMIM: 612416
Inheritance: Multiple
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

F11 || c.166T>C (209T>C)

Gene/Locus:	F11
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

F11 || c.1361T>A

Gene/Locus:	F11
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)

Phenotype: Factor XI deficiency

References