Factor XI Variant Database

In Depth Variant Analysis: c.755G>T (p.Arg252Ile)

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c.755G>T

p.Arg252Ile (Legacy AA No. 234)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

G>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251340

Allele Frequency *:

0.000004

Variant Comments & Reference:

Bolton-Maggs et al 2003 (Abstract)

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	Ile	aliphatic	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 97

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -4.465)

Structural Implications:

Arg252 is an exposed residue (surface accessibility value = 3 ).

Arg252 is in a random coil area of the FXI structure.

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

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