Factor XI Variant Database

In Depth Variant Analysis: c.976C>T (p.Arg326Cys)

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c.976C>T

p.Arg326Cys (Legacy AA No. 308)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251384

Allele Frequency *:

0.000024

Variant Comments & Reference:

Introduction of a Cys residue may disrupt disulphide bridge formation. Arg326 lies close to the part of the Ap4 domain responsible for extensive non-covalent interactions between the FXI monomers. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
19				41	33	Heterozygote		Mild	History of easy bruising.	Mitchell et al 1999
243			UK Population	43	33	Heterozygote		Not Reported		Mitchell et al 2006
436	85	F	Australian	52		Compound heterozygote	c.809A>T (p.Lys270Ile)	Not Reported	Median aPTT time: 46 seconds.	Duncan et al 2008
437				36		Heterozygote		Not Reported		Saunders et al 2009

Residue Information:

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

Substitution Analysis:

Grantham Score : 180

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -3.712)

Structural Implications:

Arg326 is a buried residue (surface accessibility value = 1 ).

Arg326 is in a random coil area of the FXI structure.

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

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