Variant Comments & Reference:

This point mutation interferes with normal splicing and results in a truncated protein. Fard-Esfahani et al 2008

Patient Information: Show

Structural Interpretation:

Structural analysis cannot be performed on this (Point | ) variant.

Variant Comments & Reference:

Normal amount of mutant protein secreted from BHK cells. Experimental data indicates the mutation changes the conformation of the unoccupied active site of FXIa. When compared with wild type, FXI-Glu573 activates FIX at a greatly reduced rate. Modelling indicates side chain of Glu573 alters electrostatic charge around active site and interferes with the interaction between FXI and FIX and antithrombin. Zivelin et al 2001 (Abstract), Zivelin et al 2004, Schmidt et al 2004

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
82			Bucharian-Jewish	<1	100	Homozygote		Severe	Injury-related bleeding tendency	Zivelin et al 2001 (Abstract)
261			UK Population	51		Heterozygote		Not Reported		Mitchell et al 2006

Structural Interpretation:

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