Factor XI Variant Database

In Depth Variant Analysis: c.596C>T (p.Ala199Val)

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c.596C>T

p.Ala199Val (Legacy AA No. 181)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Ala199 is located next to the conserved Cys200 residue that forms a disulphide bridge with Cys283 connecting the two ends of the Ap3 domain. The Ala199Val substitution interferes with the disulphide bond leading to a misfolded protein. de Raucourt et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
476	23	F	French	0.07	0.07	Compound heterozygote	c.1288G>A (p.Ala430Thr)	Severe	Menorrhagia, gingivorrhagia and easy bruising. Dental extractions under tranexamic acid cover associated with post-procedural excessive bleeding. APTT 55 sec, Blood Group O.	de Raucourt et al 2008

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral
Mutated	Val	aliphatic	acyclic	medium	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 64

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.884)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -1.327)

Structural Implications:

Ala199 is an exposed residue (surface accessibility value = 4 ).

Ala199 is in a random coil area of the FXI structure.

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

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