Factor XI Variant Database

In Depth Variant Analysis: c.1557G>C (p.Trp519Cys)

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c.1557G>C

p.Trp519Cys (Legacy AA No. 501)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251432

Allele Frequency *:

0.000004

Variant Comments & Reference:

Saunders et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
48	38	F	Lebanese	2	<1	Homozygote		Severe	Patient experienced few bleedings, except for two post-partum haemorrhages. No history of severe mucocutaneous bleeding or haemarthrosis.	de Moerloose et al 2004
49		F	Lebanese	36	36	Heterozygote		Mild		de Moerloose et al 2004
50		M	Lebanese	40	32	Heterozygote		Mild		de Moerloose et al 2004
509				2	<1	Compound heterozygote	c.1832T>G (p.Val611Gly)	Not Reported		Unpublished Data

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Trp	aromatic	cyclic	large	buried	hydrophobic	neutral
Mutated	Cys	-	acyclic	medium	buried	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 215

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -10.755)

Structural Implications:

Trp519 is a buried residue (surface accessibility value = 0 ).

Trp519 is in a region of secondary structure within the FXI domains.

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

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