Factor XI Variant Database

In Depth Variant Analysis: c.723C>G (p.Phe241Leu)

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c.723C>G

p.Phe241Leu (Legacy AA No. 223)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

C>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282784

Allele Frequency *:

0.000067

Variant Comments & Reference:

Asselta et al 2017

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Phe	aromatic	cyclic	large	buried	hydrophobic	neutral
Mutated	Leu	aliphatic	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 22

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -3.021)

Structural Implications:

Phe241 is a buried residue (surface accessibility value = 0 ).

Phe241 is in a region of secondary structure within the FXI domains.

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

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