Factor XI Variant Database

In Depth Variant Analysis: c.227G>T (p.Cys76Phe)

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c.227G>T

p.Cys76Phe (Legacy AA No. 58)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

G>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Mitchell et al 2006

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
219			UK Population	<1		Homozygote		Severe		Mitchell et al 2006

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Phe	aromatic	cyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 205

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.605)

Structural Implications:

Cys76 is a buried residue (surface accessibility value = 0 ).

Cys76 is in a region of secondary structure within the FXI domains.

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

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