Variant Comments & Reference:

Expression studies showed that although mutant protein was synthesised in BHK transfected cells, it was not secreted. The medium of cells transfected with recombinant Cys255Tyr contained 3% of factor XI antigen secreted by normal cells but no demonstrable factor XI activity. The Cys255Tyr mutation disrupts the C226-C255 bond in Ap3. Zivelin et al 2002

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
4	13	M	French Basque/Jewish	<1		Compound heterozygote		Severe	No bleeding after tonsillectomy following pl asma treatment	Zivelin et al 2002
103	10	M		<1			c.403G>T (p.Glu135*)	Severe	No bleeding after testicular surgery following plasma treatment	Zivelin et al 2002

Structural Interpretation:

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