Factor XI Variant Database

In Depth Variant Analysis: c.1103G>A (p.Gly368Glu)

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c.1103G>A

p.Gly368Glu (Legacy AA No. 350)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251366

Allele Frequency *:

0.000012

Variant Comments & Reference:

FXI-Gly368Glu (FXI-Nagoya II), with a more profound defect in dimerisation than FXI-Phe301Leu, would not be expected to influence secretion of wild-type protein appreciably, as was observed in co-transfection experiments. Northern blot analysis demonstrated that wild type and mutant protein generated similar amounts of mRNA. Kravtsov et al 2004, Yang et al 2021

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	Inheritance	Other Variants	Severity	Comments	Reference
620	6	F	Chinese	1	Compound heterozygote	c.1136-4delGTTG	Not Reported	Epistaxis	Shao et al 2016
674		F			Compound heterozygote	c.1556G>A (p.Trp519*)	Not Reported	Reduced FXI activity and antigen levels to 1% and 1.3% of normal, respectively.	Yang et al 2021
675		F			Heterozygote		Not Reported		Yang et al 2021
676		M			Heterozygote		Not Reported		Yang et al 2021

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Glu	acidic	acyclic	large	surface	hydrophilic	negative

Substitution Analysis:

Grantham Score : 98

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -4.487)

Structural Implications:

Gly368 is a buried residue (surface accessibility value = 0 ).

Gly368 is in a region of secondary structure within the FXI domains.

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

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