Factor XI Variant Database

In Depth Variant Analysis: c.1498T>C (p.Cys500Arg)

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c.1498T>C

p.Cys500Arg (Legacy AA No. 482)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

T>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251430

Allele Frequency *:

0.000008

Variant Comments & Reference:

Cys500Arg breaks the disulphide bridge between Cys500-Cys380. Saunders et al 2009

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 180

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

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Deleterious (SCORE: -9.859)

Structural Implications:

Cys500 is a buried residue (surface accessibility value = 0 ).

Cys500 is in a region of secondary structure within the FXI domains.

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

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