Variant Comments & Reference:

In single transient transfections, FXI-Phe243 levels in media are low compared with FXI-Wild-Type (WT). This appears to be due to reduced secretion, as FXI-Phe243 levels in lysates are comparable to FXI-WT. Co-transfection of FXI-WT with FXI-Phe243 results in reduced FXI in media compared with FXI-WT control, with little change in intracellular protein. Western blots of intracellular protein shows that FXI-Phe243 forms intracellular dimers similar to FXI-WT, indicating that poor secretion of this mutant is not due to a failure to form dimers. Kravtsov et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
144	34	M		22	22	Heterozygote		Not Reported	History of knee hemarthrosis and frequent epistaxis.	Kravtsov et al 2005
145				25	25	Heterozygote		Not Reported		Kravtsov et al 2005

Structural Interpretation:

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