Variant Comments & Reference:

Saunders et al 2005, Tiscia et al 2017

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
41			Japanese			Homozygote		Severe		Morishita et al 2003 (Abstract)
234			UK Population	1		Homozygote		Not Reported		Mitchell et al 2006
542	25	M	Italian	34		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
543	55	F	Italian	34		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017

Structural Interpretation:

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Variant Comments & Reference:

Cys230Ser in exon 7 suppresses a disulphide bond that maintains the 220-226 loop in the tertiary structure of the third apple domain. It is also possible that free cysteine affects other disulphide bonds such as the 226-255 bond. Aberrant or absent disulphide bonds may disrupt the protein structure leading to impaired secretion or function or increased clearance of misfolded proteins. Another mutation involving Cys230 has been described (Cys230Arg). The Cys230 residue is buried. As a consequence, the size or charge of the substituting Arg residue may contribute to protein structure disruption. In Cys230Ser however, neither size nor charge can account for the structure disruption, rather the suppression of disulphide bridges is likely to be the determinant of altered secretion. Quelin et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
419		F	French	<1		Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Transfusion for bleeding complications and post-operative bruising following ovariectomy	Quelin et al 2009
420		F		<1		Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Patient sufferes from spontaneous bruising and gingivorrhagia.Post-operative bleeding following cholecystectomy requiring no therapeutic intervention. Ovarian bruising following obstetric delivery.	Quelin et al 2009
421		F	French	38		Heterozygote		Not Reported	Bleeding following tooth extraction - requiring no therapeutic intervention. No spontaneous bleeding symptoms.	Quelin et al 2009
422		F	French	35		Heterozygote		Not Reported	Easy bruising	Quelin et al 2009

Structural Interpretation:

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