Variant Comments & Reference:

Expression studies indicate that this is a causative mutation (rather than a benign polymorphism -Germanos-Haddad et al 2003). FXI antigen assays confirm that FXI-Cys396 is secreted. FXI activity assays show FXI-Cys396 to have minimal activity, demonstrating that it is functionally inactive in an APTT-based assay. If, as is suggested in the Germanos-Haddad abstract, Arg396Cys is identified in the 'normal' lebanese population, thus leading to it being misassigned as a polymorphism, then it is possible that it is a common founder mutation. Mitchell et al 2007

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
245			UK Population	61	83	Heterozygote		Not Reported		Mitchell et al 2006
468		F		44		Heterozygote		Not Reported	Patient bleeds++, 'Slow wound healing' and menorrhagia.	Mitchell et al 2007

Structural Interpretation:

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