Factor XI Variant Database

In Depth Variant Analysis: c.137G>T (p.Cys46Phe)

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c.137G>T

p.Cys46Phe (Legacy AA No. 28)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

G>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251460

Allele Frequency *:

0.000012

Variant Comments & Reference:

This mutation represents a structurally significant change as it abolishes a Cys46-Cys76 disulphide bridge that is essential for the folding of the first apple domain. Zivelin et al 2002, Hill et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
165	15	F		24	35	Heterozygote		Mild	Menorrhagia	Hill et al 2005
166	10	F		31	41	Heterozygote		Mild	Easy bruising, epistaxis, bleeding gums	Hill et al 2005
167	45	M		26		Heterozygote		Mild	Bleeding postdental extraction	Hill et al 2005
617	32	F	Chinese	1		Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Easy bruising and menorrhagia	Shao et al 2016

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: -5.128)

Structural Implications:

Cys46 is a buried residue (surface accessibility value = 0 ).

Cys46 is in a region of secondary structure within the FXI domains.

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

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