Factor XI Variant Database

In Depth Variant Analysis: c.1178C>T (p.Ala393Val)

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c.1178C>T

p.Ala393Val (Legacy AA No. 375)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251490

Allele Frequency *:

0.000008

Variant Comments & Reference:

Ala393Val is exposed in the SP domain on the opposite side of where the His431-Asp480-Ser575 catalytic triad at the active site is located; however, its effect is not clear from the FXI structure. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
467				35	69	Heterozygote		Not Reported		Saunders et al 2009

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral
Mutated	Val	aliphatic	acyclic	medium	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 64

PolyPhen-2 Prediction : Benign (SCORE: 0.006)

SIFT Prediction : Tolerated (SCORE: 0.16)

PROVEAN Prediction : Neutral (SCORE: -1.258)

Structural Implications:

Ala393 is an exposed residue (surface accessibility value = 4 ).

Ala393 is in a region of secondary structure within the FXI domains.

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

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