Variant Comments & Reference:

Expression of mutant protein shows mutant is secreted poorly compared to wild type. This mutation destroys an N-linked glycosylation site. Substitution of Thr493 with Ala, Pro, Lys or Arg all abolish the site and also severely reduce level of secreted FXI:Ag. Substitution with Ser which does not abolish the site had no affect on secretion. However substitution of Asn491 with Ala which abolishes the glycosylation site also had no affect on secretion. This indicates the cause of failure to secrete FXI is not the loss of glycolsylation site. McVey et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
46						Heterozygote		Mild		Bolton-Maggs et al 2003 Abstract
164		M	Non-Jewish	39	27	Heterozygote		Mild	Asymptomatic microscopic haematuria identified at medical examination, age 14. Bleed for 2 days following tooth extraction.	McVey et al 2005
255			UK Population	46		Heterozygote		Not Reported		Mitchell et al 2006

Structural Interpretation:

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