Factor XI Variant Database

In Depth Variant Analysis: c.943G>A (p.Glu315Lys)

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c.943G>A

p.Glu315Lys (Legacy AA No. 297)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282756

Allele Frequency *:

0.000028

Variant Comments & Reference:

Expression of Glu315Lys in BHK cells revealed impaired secretion (4.5% of wild-type FXI) despite the presence of 70% of wild-type FXI antigen in cell lysate, which was shown to be a dimer by western blot analysis. Zucker et al 2007, Tiscia et al 2017

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
152				40		Heterozygote		Not Reported	No bleeding tendency	Mathonet et al 1999 (Abstract)
194	57	M	French	38	39	Heterozygote		Not Reported	Epistaxis	Quelin et al 2006
195	25	F	French	40		Heterozygote		Not Reported		Quelin et al 2006
210	31	M	French	40	52	Heterozygote		Not Reported		Quelin et al 2005
430				4		Compound heterozygote	c.943G>T (p.Glu315*)	Not Reported	No bleeding tendency	Hopmeier et al 2004
495	24	F	Belgic	<2	<5	Compound heterozygote	c.1634G>A (p.Cys545Tyr)	Severe	Bleeding after tooth extraction.	Zucker et al 2007
551	31	F	Italian	7		Compound heterozygote	c.1556G>A (p.Trp519*)	Not Reported	Vaginal bleeding during pregnancy	Tiscia et al 2017
553	53	F	Italian	39		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
554	29	F	Italian	29		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
561	3	F	Italian	34		Compound heterozygote	c.1682G>A (p.Ala561Asp)	Not Reported	Asymptomatic	Tiscia et al 2017
562	30	F	Italian	36		Compound heterozygote	c.1682G>A (p.Ala561Asp)	Not Reported	Asymptomatic	Tiscia et al 2017

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 : Possibly Damaging (SCORE: 0.736)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Neutral (SCORE: 0.021)

Structural Implications:

Glu315 is an exposed residue (surface accessibility value = 4 ).

Glu315 is in a region of secondary structure within the FXI domains.

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

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