Factor XI Variant Database

In Depth Variant Analysis: c.788G>A (p.Gly263Glu)

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c.788G>A

p.Gly263Glu (Legacy AA No. 245)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Hill et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
173	27	F		31	26	Heterozygote		Mild	Easy bruising, has had thrombosis, no bleeding history	Hill et al 2005
174	52	F		61		Heterozygote		Mild	Asymptomatic	Hill et al 2005

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Glu	acidic	acyclic	large	surface	hydrophilic	negative

Substitution Analysis:

Grantham Score : 98

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -4.699)

Structural Implications:

Gly263 is a buried residue (surface accessibility value = 0 ).

Gly263 is in a region of secondary structure within the FXI domains.

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

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