Variant Comments & Reference:

Glu597Lys affects overall protein charge. A given patient presented with low levels of FXI activity (15 iu/dL), either due to an undetected mutation in the experimental procedure or due to the fact that Glu597Lys is a dominant mutation that can exert a negative effect on secretion of wild-type FXI. Such dominant mutants have already been described: Trp587Ser, Thr593Met and Ser594Arg. Interestingly, the four mutations are located with in the same 10-amino acid strand, suggesting a critical role for this segment in the dimerisation process. Quelin et al 2006

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
502	28	F		15		Heterozygote		Not Reported	No spontaneous bleeding symptoms. No bleeding after delivery, and tubectomy and ovariectomy.	Quelin et al 2006

Structural Interpretation:

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