Factor V Variant Database

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

c.996A>C

p.Lys332Asn (Legacy AA No. 304)

Variant Type:

Point

Domain:

Location:

Exon 6

Variant Effect:

Missense

Codon Change:

996A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282764

Allele Frequency *:

0.000315

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
105	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 569550
106	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 569550

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Lys	basic	acyclic	large	surface	hydrophilic	postive
Mutated	Asn	-	acyclic	medium	surface	hydrophilic	neutral

Grantham Score : 94

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

SIFT Prediction : Probably Damaging (SCORE: 0.04)

PROVEAN Prediction : Deleterious (SCORE: -2.740)

Lys332 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