Factor V Variant Database

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c.2051G>A

p.Cys684Tyr (Legacy AA No. 656)

Variant Type:

Point

Domain:

d5a2

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2051G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
282	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Tyr	aromatic	cyclic	large	surface	hydrophobic	neutral

Grantham Score : 194

PolyPhen-2 Prediction : benign (SCORE: 0.265)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -9.200)

Cys684 is in a region on the surface of the FV structure that is undefined. Hence the FV structure and its JMOL applet are not shown below.

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Factor X Variant Database