Factor XI Variant Database

In Depth Variant Analysis: c.1199C>T (p.Pro400Leu)

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c.1199C>T

p.Pro400Leu (Legacy AA No. 382)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251476

Allele Frequency *:

0.000008

Variant Comments & Reference:

Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Reference
151			European	<1		Compound heterozygote	c.408C>A (p.Cys136*)	Severe	Bolton-Maggs et al 1999 Abstract
209	58	M	French	<1	<1	Compound heterozygote	c.166T>C (p.Cys56Arg)	Severe	Quelin et al 2005
226			UK Population	<1		Compound heterozygote	c.408C>A (p.Cys136*)	Severe	Mitchell et al 2006

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Pro	-	cyclic	medium	surface	hydrophobic	neutral
Mutated	Leu	aliphatic	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 98

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -7.855)

Structural Implications:

Pro400 is a buried residue (surface accessibility value = 0 ).

Pro400 is in a random coil area of the FXI structure.

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

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