Factor V Variant Database

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

c.43G>A

p.Gly15Ser (Legacy AA No. -13)

Variant Type:

Point

Domain:

Signal Peptide

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

43G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

1735

Allele Number *:

282320

Allele Frequency *:

0.006146

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
4	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293644
5	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293644
6	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293644

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Ser	-	acyclic	small	surface	hydrophilic	neutral

Grantham Score : 56

PolyPhen-2 Prediction : probably damaging (SCORE: 0.999)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Deleterious (SCORE: -3.449)

Gly15 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