Variant Comments & Reference:

Met120 is a buried residue and is conserved across six species and prekallikrein. Replacement of the hydrophobic non-polar Met with a hydrophilic polar Thr is likely to be structurally disruptive. Expression studies indicate it is not expressed and type I. This amino acid substitution does not prevent the formation of dimers, despite the established role of the Ap2 domain in dimer formation. Mitchell et al 2006, Mitchell et al 2007

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
405						Heterozygote		Not Reported		Mitchell et al 2006
406				40		Heterozygote		Not Reported	bleeding post dental extraction	Mitchell et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.