Factor XI Variant Database

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c.1693G>A

p.Glu565Lys (Legacy AA No. 547)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Responsible for an aberrant splicing in which exon 13 is skipped. Saunders et al 2009, Esteban et al 2017

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
177	54	F		49	37	Heterozygote		Mild	Post Partum Haemorrhage	Hill et al 2005
178	32	F		25	18	Heterozygote		Mild	2 Post-partum haemorrhage, no spontaneous bleeding	Hill et al 2005
203	33	F	French	23	32	Heterozygote		Not Reported	Epistaxis	Quelin et al 2005
465	9	F	Iranian	35		Compound heterozygote	c.1169G>C (p.Gly390Ala)	Not Reported	Haematuria and epistaxis requiring FFP for treatment and prophylaxis. No parent consanguinity; FXI activity of parents: father 46%, mother 54%.	Karimi et al 2009
593	26	F	Spanish	30		Heterozygote		Not Reported		Esteban et al 2017
594	44	F	Spanish	41		Heterozygote		Not Reported		Esteban et al 2017
595	49	F	Spanish	36		Heterozygote		Not Reported		Esteban et al 2017
596	32	M	Spanish	45		Heterozygote		Not Reported		Esteban et al 2017
597	55	F	Spanish	32		Heterozygote		Not Reported		Esteban et al 2017
598	72	F	Spanish	63		Heterozygote		Not Reported		Esteban et al 2017

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Lys	basic	acyclic	large	surface	hydrophilic	postive

Grantham Score : 56

PolyPhen-2 Prediction : Benign (SCORE: 0.373)

SIFT Prediction : Probably Damaging (SCORE: 0.04)

PROVEAN Prediction : Neutral (SCORE: -2.152)

Glu565 is in a region on the surface of the FXI structure that is undefined. Hence the FXI structure and its JMOL applet are not shown below.

NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.

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Factor XI Variant Database