Variant Comments & Reference:

Expression of mutant proteins in stably transfected cells showed a 73% reduction, but expression of the mutant protein in cell lysates was similar to normal - suggests mutant protein was synthesised but secretion was reduced. Dai et al 2004

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
60			North European Caucasian	4		Compound heterozygote	c.438C>A (p.Cys146*)	Severe	No active bleeding problems following laporoscopic sterilization.	Dai et al 2004
240			UK Population	4		Compound heterozygote	c.438C>A (p.Cys146*)	Not Reported		Mitchell et al 2006
435	46	F	Czech	4	2	Compound heterozygote	c.218+2T>A	Not Reported		Castaman et al 2008
436	85	F	Australian	52		Compound heterozygote	c.976C>T (p.Arg326Cys)	Not Reported	Median aPTT time: 46 seconds.	Duncan et al 2008

Structural Interpretation:

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