Factor XI Variant Database

Search Results: 1 unique variant retrieved.

Terms with a '*' next to them are explained on the Help Page .

c.1334A>G

p.Tyr445Cys (Legacy AA No. 427)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

A>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251392

Allele Frequency *:

0.000004

Variant Comments & Reference:

Expressing Tyr445Cys in BHK cells resulted in abrogation of FXI secretion despite intact dimerisation, and was associated with a reduced amount of FXI in lysed cells. Zucker et al 2007

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
148			Jewish	2		Compound heterozygote	c.403G>T (p.Glu135*)	Not Reported		Zivelin et al 1999 (Abstract)
483	44	F	Ashkenazi Jewish	<1	<1	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Menorrhagia	Zucker et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

Search Results: 1 unique variant retrieved.

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: