Factor XI Variant Database

In Depth Variant Analysis: c.166T>C (p.Cys56Arg)

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c.166T>C

p.Cys56Arg (Legacy AA No. 38)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

T>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251464

Allele Frequency *:

0.000012

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

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 180

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.537)

Structural Implications:

Cys56 is a buried residue (surface accessibility value = 0 ).

Cys56 is in a random coil area of the FXI structure.

The DSSP assignment for this residue is ... C.

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