Factor XI Variant Database

In Depth Variant Analysis: c.365G>A (p.Gly122Asp)

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c.365G>A

p.Gly122Asp (Legacy AA No. 104)

Variant Type:

Point

Domain:

Apple 2

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282668

Allele Frequency *:

0.000007

Variant Comments & Reference:

Mitchell et al 2003

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
8				35		Heterozygote		Mild		Mitchell et al 2003
12				42		Heterozygote		Not Reported	Suffered from epistaxis	Alhaq et al 2000
117				33		Heterozygote		Mild		Mitchell et al 2003
224			UK Population	58	61	Heterozygote		Not Reported		Mitchell et al 2006
225			UK Population	44		Heterozygote		Not Reported		Mitchell et al 2006
404	42	M		2		Compound heterozygote	c.325G>A (p.Ala109Thr)	Not Reported	APTT: 106 s	Duncan et al 2008
440				45		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	Asp	acidic	acyclic	medium	surface	hydrophilic	negative

Substitution Analysis:

Grantham Score : 94

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -3.403)

Structural Implications:

Gly122 is a buried residue (surface accessibility value = 1 ).

Gly122 is in a region of secondary structure within the FXI domains.

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

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