Factor V Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.2082G>C

p.Glu694Asp (Legacy AA No. 666)

Variant Type:

Point

Domain:

d5a2

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2082G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

vein thrombosis and pulmonary embolism

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
283	NA	F	NA	NA	NA	NA	NA	Heterozygous	NA	vein thrombosis and pulmonary embolism	Cai et al 2010
284	NA	F	NA	206	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010
285	NA	F	NA	135	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010
286	NA	M	NA	143	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Asp	acidic	acyclic	medium	surface	hydrophilic	negative

Grantham Score : 45

PolyPhen-2 Prediction : possibly damaging (SCORE: 0.909)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Neutral (SCORE: -1.583)

Glu694 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.

NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.

Please click here to view the Database Statistics

Factor X Variant Database