Variant Comments & Reference:

Cys140 is buried in an alpha-helix of Ap2 and is part of the Cys140-Cys146 conserved disulphide bridge that is (along with two other conserved disulphide bridges) responsible for the correct folding of the Ap domains. Therefore, the Cys140Tyr mutation is likely to significantly impair the folding of the Ap2 domain. Expression studies reveal a secretion defect. Quelin et al 2006, Spena et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
191	68	M		25		Heterozygote		Not Reported	No bleeding or therapy required after tonsillectomy or colectomy.	Quelin et al 2006
192	42	M		24		Heterozygote		Not Reported	Bleeding after dental extraction. Bleeding after kneecap removal requiring FFP therapy	Quelin et al 2006
193	31	M		31		Heterozygote		Not Reported	Easy bruising	Quelin et al 2006
295			Non-Jewish			Compound heterozygote		Not Reported		Castaman et al 2007 (ISTH Abstract)
513		M	Italian	4	3	Homozygote		Not Reported	FXI:C/FXI:Ag ratio = 1.17. Patient is asymptomatic: four dental extractions, one with delayed post-extraction oozing, three surgical procedures without prophylaxis.	Spena et al 2009

Structural Interpretation:

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