Factor XI Variant Database

In Depth Variant Analysis: c.1077A>G (p.Ile359Met)

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c.1077A>G

p.Ile359Met (Legacy AA No. 341)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

A>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251412

Allele Frequency *:

0.000004

Variant Comments & Reference:

Ile359 is one of several residues involved in the non-covalent interactions between two Ap4 domains in a FXI dimer. Saunders et al 2009

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ile	aliphatic	acyclic	large	buried	hydrophobic	neutral
Mutated	Met	-	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 10

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -1.217)

Structural Implications:

Ile359 is a buried residue (surface accessibility value = 0 ).

Ile359 is in a region of secondary structure within the FXI domains.

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

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