Factor V Variant Database

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c.2135G>A

p.Arg712His (Legacy AA No. 684)

Variant Type:

Point

Domain:

d5a2

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2135G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282420

Allele Frequency *:

0.000025

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
290	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806275

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	His	aromatic/basic	cyclic	large	surface	hydrophilic	postive

Grantham Score : 29

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

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Neutral (SCORE: -0.798)

Arg712 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