Factor V Variant Database

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

c.4589A>C

p.Glu1530Ala (Legacy AA No. 1502)

Variant Type:

Point

Domain:

d5a3

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

4589A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

531

Allele Number *:

282418

Allele Frequency *:

0.00188

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
521	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 787578
522	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 787578
523	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 787578

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral

Grantham Score : 107

PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.02)

PROVEAN Prediction : Deleterious (SCORE: -2.811)

Glu1530 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