Variant Comments & Reference:

High prevalence in French Basque population. Mutant protein synthesized in BHK transfected cells but not secreted. Zivelin et al 2002, Esteban et al 2017

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
1	50	F	French Basque	<1		Homozygote		Severe	No bleeding after breast surgery	Zivelin et al 2002
2	22	F	French Basque	2		Compound heterozygote	c.1531T>C (p.Tyr511His)	Severe	No bleeding after an open fracture	Zivelin et al 2002
3	35	F	French Basque	30		Heterozygote		Mild		Zivelin et al 2002
6	40	M	French Basque	36		Heterozygote		Mild	Hematoma following cervical disc surgery	Zivelin et al 2002
7	34	F	French Basque	18		Heterozygote		Mild	Mild bleeding after delivery	Zivelin et al 2002
97	22	F	French Basque	1		Compound heterozygote	c.1531T>C (p.Tyr511His)	Severe	No bleeding after dental extraction	Zivelin et al 2002
98	22	M	French Basque	40		Heterozygote		Mild	No bleeding after herniorrhaphy	Zivelin et al 2002
99	28	M		40		Heterozygote		Mild		Zivelin et al 2002
100	53	F		45		Heterozygote		Mild		Zivelin et al 2002
101	61	M	French Basque	34		Heterozygote		Mild		Zivelin et al 2002
102	51	F	French Basque	40		Heterozygote		Mild		Zivelin et al 2002
209	58	M	French	<1	<1	Compound heterozygote	c.1199C>T (p.Pro400Leu)	Severe		Quelin et al 2005
563	52	M	Spanish	1		Homozygote		Not Reported		Esteban et al 2017
564	45	F	Spanish	3		Homozygote		Not Reported		Esteban et al 2017
565	53	F	Spanish	41		Heterozygote		Not Reported		Esteban et al 2017
566	41	M	Spanish	36		Heterozygote		Not Reported		Esteban et al 2017
567	52	M	Spanish	30		Heterozygote		Not Reported		Esteban et al 2017
568	47	M	Spanish	38		Heterozygote		Not Reported		Esteban et al 2017
569	43	M	Spanish	41		Heterozygote		Not Reported		Esteban et al 2017
570	63	F	Spanish	42		Heterozygote		Not Reported		Esteban et al 2017
571	51	M	Spanish	40		Heterozygote		Not Reported		Esteban et al 2017
572	40	F	Spanish	44		Heterozygote		Not Reported		Esteban et al 2017
573	57	M	Spanish	44		Heterozygote		Not Reported		Esteban et al 2017
574	53	F	Spanish	41		Heterozygote		Not Reported		Esteban et al 2017
575	44	F	Spanish	37		Heterozygote		Not Reported		Esteban et al 2017
576	47	M	Spanish	37		Heterozygote		Not Reported		Esteban et al 2017
577	32	F	Spanish	34		Heterozygote		Not Reported		Esteban et al 2017
578	79	M	Spanish	28		Heterozygote		Not Reported		Esteban et al 2017
579	58	F	Spanish	42		Heterozygote		Not Reported		Esteban et al 2017
580	42	M	Spanish	49		Heterozygote		Not Reported		Esteban et al 2017
581	68	M	Spanish	40		Heterozygote		Not Reported		Esteban et al 2017
582	49	M	Spanish	68		Heterozygote		Not Reported		Esteban et al 2017
583	52	M	Spanish	58		Heterozygote		Not Reported		Esteban et al 2017
584	59	F	Spanish	42		Heterozygote		Not Reported		Esteban et al 2017
585	49	M	Spanish	25		Heterozygote		Not Reported		Esteban et al 2017
586	71	F	Spanish	2		Compound heterozygote	c.1247G>A (p.Cys416Tyr)	Not Reported		Esteban et al 2017

Structural Interpretation:

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Variant Comments & Reference:

Ramadan et al 2006

Patient Information: Show

Structural Interpretation:

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

Variant Comments & Reference:

Cys56 is a buried residue located in a random coil of Ap1 and is involved in the Cys50-Cys56 disulphide bridge. This disulphide bridge represents one of three conserved bridges that are responsible for the correct folding of the Ap domains. Therefore, Cys56Trp mutation is likely to significantly impair folding of the Ap1 domain. Expression studies reveal a secretion defect. Castaman et al 2005, Spena et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
511			Italian	20	46	Heterozygote		Not Reported	FXI:C/FXI:Ag ratio = 0.435. Asymptomatic.	Spena et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.