Variant Comments & Reference:

Bolton-Maggs et al 2003 (Abstract), Esteban et al 2017

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
44						Heterozygote		Not Reported		Bolton-Maggs et al 2003 Abstract
45						Homozygote		Severe		Bolton-Maggs et al 2003 Abstract
238			UK Population	8		Homozygote		Not Reported		Mitchell et al 2006
239			UK Population	53		Heterozygote		Not Reported		Mitchell et al 2006
603	69	F	Spanish	35		Heterozygote		Not Reported		Esteban et al 2017

Structural Interpretation:

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Variant Comments & Reference:

Homologue scanning mutagenesis studies of conformationally constrained synthetic peptides identified amino acid residues Arg268 (and Lys273) as being important for binding of FXI to platelets. Amino acid change at Arg268His is likely to cause disruption to normal platelet binding (but not as much as would Arg268Cys). Ho et al 2000, Duncan et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
356	9	F		24		Compound heterozygote		Not Reported	Patient has a bleeding Hx.	Duncan et al 2008
425	9	F	Australian	24		Compound heterozygote	c.717insT	Not Reported	Patient has a bleeding Hx.	Duncan et al 2008

Structural Interpretation:

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