Factor XI Variant Database

In Depth Variant Analysis: c.1118T>C (p.Leu373Ser)

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c.1118T>C

p.Leu373Ser (Legacy AA No. 355)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

T>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282678

Allele Frequency *:

0.000032

Variant Comments & Reference:

May disrupt a neighbouring disulphide bridge. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
247			UK Population	67		Heterozygote		Not Reported		Mitchell et al 2006

Residue Information:

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

Substitution Analysis:

Grantham Score : 145

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -2.930)

Structural Implications:

Leu373 is a buried residue (surface accessibility value = 1 ).

Leu373 is in a random coil area of the FXI structure.

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

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