Factor XI Variant Database

In Depth Variant Analysis: c.1760G>C (p.Trp587Ser)

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c.1760G>C

p.Trp587Ser (Legacy AA No. 569)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Co-transfection with wild-type and mutant protein reduces wild-type secretion about 50% - non-secretable mutant protein monomers trap wild-type polypeptides within cells through homodimer formation, resulting in lower FXI levels in plasma. Mutant protein is not expressed in 293 kidney fibroblasts. Gailani et al 2001 (Abstract B), Kravtsov et al 2004

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
37	49	M	German			Heterozygote		Not Reported	History of numerous episodes of epistaxis, some requiring plasma infusions or cautery.	Kravtsov et al 2004
87			US	15		Heterozygote		Not Reported	Bleeding after surgical or dental procedures	Gailani et al 2001 Abstract B

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Trp	aromatic	cyclic	large	buried	hydrophobic	neutral
Mutated	Ser	-	acyclic	small	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 177

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

SIFT Prediction : Probably Damaging (SCORE: 0.03)

PROVEAN Prediction : Deleterious (SCORE: -12.082)

Structural Implications:

Trp587 is a buried residue (surface accessibility value = 1 ).

Trp587 is in a region of secondary structure within the FXI domains.

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

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