Variant Comments & Reference:

Mutant protein activates FXI normally in purified protein system and has normal activity, however activation of mutant protein by thrombin in presence of activated platelets is slower than normal. The mutation is associated with reduction in affinity for platelets. Sun et al 2001

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
15	9	M	African American	42	70	Compound heterozygote		Mild	History of excessive bleeding after dental procedures and frequent epistaxis. Required plasma transfusions.	Martincic et al 1998
16		F	African American	67	80	Heterozygote		Not Reported	History of abnormal hemostastis with bleeding after dental procedures, frequent epistaxis and heavy bleeding after childbirth.	Martincic et al 1998

Structural Interpretation:

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