Factor XI Variant Database

In Depth Variant Analysis: c.1102G>A (p.Gly368Arg)

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c.1102G>A

p.Gly368Arg (Legacy AA No. 350)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

The Gly368Arg mutant is thought not to be secreted as the patient in which the mutation was found shows a parallel defect of both FXI:C and FXI:Ag levels. Quelin et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
461		M		<1	<1	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Post traumatic bleeding following surgery for a maxillary fracture. Bleeding also occurred under fresh frozen plasma (FFP) prophylactic infusion for surgical material removal. Two other uncomplicated surgical procedures were performed in this patient under prophylactic FFP cover.	Quelin et al 2009

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 : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Deleterious (SCORE: -4.747)

Structural Implications:

Gly368 is a buried residue (surface accessibility value = 0 ).

Gly368 is in a region of secondary structure within the FXI domains.

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

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