Factor XI Variant Database

In Depth Variant Analysis: c.731A>G (p.Gln244Arg)

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c.731A>G

p.Gln244Arg (Legacy AA No. 226)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

A>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

None

Allele Count *:

601

Allele Number *:

282734

Allele Frequency *:

0.002126

Variant Comments & Reference:

This mutation is seen in compound heterzygosity but FXI:C is consistent with a partial deficiency and is likely a polymorphism. Sun et al 2001, O'Connell et al 2005, Wiewel-Verschueren et al 2017

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gln	-	acyclic	large	surface	hydrophilic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 43

PolyPhen-2 Prediction : Benign (SCORE: 0.000)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Neutral (SCORE: -1.266)

Structural Implications:

Gln244 is an exposed residue (surface accessibility value = 3 ).

Gln244 is in a random coil area of the FXI structure.

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

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