Factor XI Variant Database

In Depth Variant Analysis: c.1684G>A (p.Gly562Ser)

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c.1684G>A

p.Gly562Ser (Legacy AA No. 544)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251490

Allele Frequency *:

0.000040

Variant Comments & Reference:

Gly562Ser resides on a surface exposed loop within the SP domain and it is not clear whether this is the causative mutation because the patients mother has the mutation but has normal FXI:C levels. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
496				62		Heterozygote		Not Reported		Saunders et al 2009
497				105		Heterozygote		Not Reported	Mother of patient 496	Saunders et al 2009

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Ser	-	acyclic	small	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 56

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.982)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.131)

Structural Implications:

Gly562 is in a region on the surface of the FXI structure that is undefined. Hence the FXI structure and its JMOL applet are not shown below.

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