Variant Comments & Reference:

Introduction of an additional Cys residue within the third apple domain of FXI may result in mis-pairing of disulphide bridges resulting in an altered unstable conformation of the protein, targeting it for degradation within the cell. Also the mutant protein may be less efficiently secreted from the cell. Alhaq et al 1999

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
61	68	F	Italian	2	Undetectable	Homozygote		Severe	Presented with cerebral thromboembolic event but no history of bleeding.	Alhaq et al 1999
124		M	Italian	40		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
125		M	Italian	36		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
126		F	Italian	50		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
127		F	Italian	31		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
128		F	Italian	3		Homozygote		Severe	No history of Bleeding	Alhaq et al 1999
129		F	Italian	6		Homozygote		Severe	No history of Bleeding	Alhaq et al 1999
130		F	Italian	53		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Variant Comments & Reference:

Saunders et al 2009, Wang et al 2019, Liu et al 2019, Xia et al 2020, Zhang et al 2020

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
132		F	Chinese			Compound heterozygote	c.1202G>A (p.Trp401*)	Not Reported		Wu et al 2003 (Abstract)
133			Chinese			Heterozygote		Not Reported		Wu et al 2004 (Abstract)
617	32	F	Chinese	1		Compound heterozygote	c.137G>T (p.Cys46Phe)	Not Reported	Easy bruising and menorrhagia	Shao et al 2016
624	5	F	Chinese	<1		Compound heterozygote		Not Reported	Epistaxis - also carries A91fsX9 mutation	Shao et al 2016
640	32	F	Chinese	2	5.4	Compound heterozygote	c.938G>T (p.Ser313Ile)	Not Reported	Heavy menorrhagia and delayed wound healing	Wang et al 2019
642		F	Chinese	62	64.1	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
644		F	Chinese	40	48.3	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
645		F	Chinese	38	44.8	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
652	58	M	Taiwanese	<1		Compound heterozygote	c.1107C>A (p.Tyr369*)	Not Reported	Gastrointestinal bleeding (Grade III bleeding)	Lin et al 2020
660		F				Compound heterozygote	c.1556G>C (p.Trp519Ser)	Not Reported	Reduced FXI activity and antigen levels to 6% and 10.7% of normal, respectively.	Liu et al 2019
661		F				Heterozygote		Not Reported		Liu et al 2019
662		F				Heterozygote		Not Reported		Liu et al 2019
663		F				Heterozygote		Not Reported		Liu et al 2019
667		F				Compound heterozygote	c.938G>T (p.Ser313Ile)	Not Reported	Reduced FXI activity and antigen levels to 10% and 15% of normal, respectively.	Xia et al 2020
668		F				Compound heterozygote	c.938G>T (p.Ser313Ile)	Not Reported	Reduced FXI activity and antigen levels to 2% and 11.5% of normal, respectively.	Xia et al 2020
669		M				Heterozygote		Not Reported		Xia et al 2020
670		F				Heterozygote		Not Reported		Xia et al 2020
671		F				Heterozygote		Not Reported		Xia et al 2020
679	4	M		<1		Compound heterozygote	c.841C>T (p.Gln281*)	Severe	Bruising	Zhang et al 2020

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.