Factor XI Variant Database

In Depth Variant Analysis: c.296C>A (p.Ser99Tyr)

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c.296C>A

p.Ser99Tyr (Legacy AA No. 81)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251272

Allele Frequency *:

0.000004

Variant Comments & Reference:

Ser99Tyr is fully buried at the end of Î²-strand G in the Ap1 domain, thus the replacement with a bulky Tyr residue is expected to disrupt the protein folding. Saunders et al 2009

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ser	-	acyclic	small	surface	hydrophilic	neutral
Mutated	Tyr	aromatic	cyclic	large	surface	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 144

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -2.826)

Structural Implications:

Ser99 is a buried residue (surface accessibility value = 0 ).

Ser99 is in a random coil area of the FXI structure.

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

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