Variant Comments & Reference:

Mutant protein is expressed at levels comparable to normal FXI, and mutant protein was not secreted. Bolton-Maggs et al 2003 (Abstract)

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
10				42		Heterozygote		Mild		Mitchell et al 2003
13				51		Heterozygote		Not Reported	Long history of bleeding including epistaxis and post tonsillectomy.	Alhaq et al 2000
42						Homozygote		Severe		Bolton-Maggs et al 2003 Abstract
141	9	M	Indian	2		Compound heterozygote	c.865G>C (p.Val289Leu)	Not Reported	Post op bleeding only	Jayandharan et al 2005
142	11	M	Indian	<1		Homozygote		Severe	Severe bleeding symptoms characterized by hemarthroses, easy bruising, excessive bleeding from tooth sockets and repeated episodes of bleeding from minor injurie s since childhood.	Jayandharan et al 2005
206	40	F	French	5		Homozygote		Not Reported		Quelin et al 2005
207	4	M	French	32		Heterozygote		Not Reported		Quelin et al 2005
208	2	M	French	18	13	Compound heterozygote	c.259C>A (p.Pro87Thr)	Not Reported		Quelin et al 2005
254			UK Population	<1		Homozygote		Severe		Mitchell et al 2006
408				2	2	Compound heterozygote	c.449C>T (p.Thr150Met)	Not Reported		Saunders et al 2009
635	14	M	Indian	<1		Homozygote		Not Reported	Epistaxis	Kawankar et al 2016

Structural Interpretation:

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