Factor XI Variant Database

In Depth Variant Analysis: c.1103G>C (p.Gly368Ala)

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c.1103G>C

p.Gly368Ala (Legacy AA No. 350)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251366

Allele Frequency *:

0.000004

Variant Comments & Reference:

Decreases FXI dimerisation. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
31	85	F	Nantes	1	20	Homozygote	c.1797T>A (p.Cys599*)	Severe	Patient suffered epistaxis. Also bled after dental extraction without treatment, treated after procedure with fresh frozen plasma. Showed brusing after delivery without treatment.	Quelin et al 2004

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 60

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -3.537)

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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