Factor XI Variant Database

In Depth Variant Analysis: c.1021G>A (p.Glu341Lys)

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c.1021G>A

p.Glu341Lys (Legacy AA No. 323)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251454

Allele Frequency *:

0.000016

Variant Comments & Reference:

Glu341 lies close to the part of the Ap4 domain responsible for extensive non-covalent interactions between the FXI monomers. Amount of mutant protein secreted from cells in vitro is reduced. Pugh et al 1995, Saunders et al 2009, Zhang et al 2020

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
134			Chinese			Heterozygote		Not Reported		Wu et al 2004 (Abstract)
220			UK Population	9		Compound heterozygote	c.325G>A (p.Ala109Thr)	Not Reported		Mitchell et al 2006
459	33	F	Ashkenazi Jewish	9	9	Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported	Epistaxis	Zucker et al 2007
623	50	M	Chinese	3		Compound heterozygote	c.1253G>T (p.Gly418Val)	Not Reported	Easy bruising and bleeding following injury/surgery	Shao et al 2016
682	39	M		6.4		Compound heterozygote	c.55G>A	Severe	Asymptomatic	Zhang et al 2020
684	26	F		<1		Compound heterozygote	c.1556G>A (p.Trp519*)	Severe	Intra-articular bleeding	Zhang et al 2020

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Lys	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 56

PolyPhen-2 Prediction : Benign (SCORE: 0.004)

SIFT Prediction : Tolerated (SCORE: 0.09)

PROVEAN Prediction : Neutral (SCORE: -1.550)

Structural Implications:

Glu341 is an exposed residue (surface accessibility value = 6 ).

Glu341 is in a random coil area of the FXI structure.

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

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