Factor XI Variant Database

In Depth Variant Analysis: c.1336A>G (p.Ser446Gly)

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c.1336A>G

p.Ser446Gly (Legacy AA No. 428)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

A>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

None

Allele Count *:

Allele Number *:

251392

Allele Frequency *:

0.000008

Variant Comments & Reference:

One small hydrophilic amino acid (Ser) is replaced by another small, hydrophilic amino acid (Gly). Ser446 is conserved in bovine FXI and human prekallikrein, but it is not conserved in rabbit or murine FXI. Likely to be a non-causative polymorphism. Duncan et al 2008

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ser	-	acyclic	small	surface	hydrophilic	neutral
Mutated	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 56

PolyPhen-2 Prediction : Benign (SCORE: 0.008)

SIFT Prediction : Tolerated (SCORE: 1.00)

PROVEAN Prediction : Neutral (SCORE: -0.972)

Structural Implications:

Ser446 is a buried residue (surface accessibility value = 0 ).

Ser446 is in a region of secondary structure within the FXI domains.

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

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