Factor XI Variant Database

In Depth Variant Analysis: c.52G>C (p.Gly18Arg)

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c.52G>C

p.Gly18Arg (Legacy AA No. -1)

Variant Type:

Point

Domain:

Signal Peptide

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Signal peptide prediction analysis results showed that this mutation would disrupt the original signal peptide cutting site between -1 and +1 amino acid position, resulting in impaired secretion of the synthesised FXI protein. Wang et al 2009

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 125

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.808)

SIFT Prediction : Probably Damaging (SCORE: 0.02)

PROVEAN Prediction : Neutral (SCORE: -1.381)

Structural Implications:

Gly18 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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