Variant Comments & Reference:

Expression studies confirm that Thr593Met is a type II (CRM+) variant with a loss of functional activity most likely due to disruption of the catalytic domain. Thr593 in the catalytic domain is highly conserved. Molecular modeling predicts that the introduction of Met at position 593 results in the formation of a new hydrogen bond with Ser575, one of the residues that make up the serine protease catalytic triad in the FXI protein. Mitchell et al 2007

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
136	22	F	Lebanese	2	105	Homozygote		Not Reported	No personal or family history of bleeding - was admitted for kidney donation to her brother.	Germanos-Haddad et al 2005
137		F	Lebanese	38	83	Heterozygote		Not Reported		Germanos-Haddad et al 2005
138		M	Lebanese	67	25	Heterozygote		Not Reported		Germanos-Haddad et al 2005
139		F	Lebanese	43	106	Heterozygote		Not Reported		Germanos-Haddad et al 2005
140		F	Lebanese	43	112	Heterozygote		Not Reported		Germanos-Haddad et al 2005
262			UK Population	51	85	Heterozygote		Not Reported		Mitchell et al 2006
498		F		39		Heterozygote		Not Reported	Menorrhagia. Patient bled twice post-operatively - responds to FFP.	Mitchell et al 2007
619	41	F	Chinese	4		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Bleeding following injury/surgery and postpartum hemorrhage	Shao et al 2016

Structural Interpretation:

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