Variant Comments & Reference:

Ser594 partially projects into the substrate binding cleft formed between the two subdomains of the SP domain. The replacement by Arg594 is expected to block the binding of substrate to the cleft. This interpretation was supported by energy minimization which showed that no conformational changes had occurred in the SP domain. O'Connell et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
499		F		27	23	Heterozygote		Mild	Patient suffered haemorrhage following cervial erosion and miscarried during second trimester after experiencing pregnancy-associated bleeding.	Mitchell et al 1999
500				46	71	Heterozygote		Not Reported		O'Connell et al 2005
501				27	23	Heterozygote		Not Reported		Mitchell et al 2006

Structural Interpretation:

Please click HERE for in-depth variant analysis.