Factor XI Variant Database

In Depth Variant Analysis: c.1327C>T (p.Arg443Cys)

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c.1327C>T

p.Arg443Cys (Legacy AA No. 425)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282750

Allele Frequency *:

0.000025

Variant Comments & Reference:

Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
481				46		Heterozygote		Not Reported		Mitchell et al 2006
482				31	39	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: -3.964)

Structural Implications:

Arg443 is an exposed residue (surface accessibility value = 2 ).

Arg443 is in a region of secondary structure within the FXI domains.

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

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