Factor XI Variant Database

In Depth Variant Analysis: c.518G>A (p.Gly173Glu)

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c.518G>A

p.Gly173Glu (Legacy AA No. 155)

Variant Type:

Point

Domain:

Apple 2

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250424

Allele Frequency *:

0.000004

Variant Comments & Reference:

Functional effect; disturbs proposed FXIa binding loop. Alhaq et al 2000, Mitchell et al 2003, O''Connell et al 2005, Saunders et al 2009

Patient Information: Show

Patient_ID	FXI:C%	FXI:Ag(%)	Inheritance	Severity	Reference
450	43	64	Heterozygote	Not Reported	O'Connell et al 2005
451	41		Heterozygote	Not Reported	Alhaq et al 2000
452	30		Heterozygote	Not Reported	Saunders et al 2009

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: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -4.113)

Structural Implications:

Gly173 is a buried residue (surface accessibility value = 1 ).

Gly173 is in a region of secondary structure within the FXI domains.

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

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