Factor V Variant Database

In-Depth Variant Analysis: c.320A>G (p.Asp107Gly)

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

c.320A>G

p.Asp107Gly (Legacy AA No. 79)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 3

Variant Effect:

Missense

Codon Change:

320A>G

No. of Patients Reported:

Phenotype:

Severe

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Severe FV deficiency (<13% FV:C) but no major bleeding episodes reported

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
32	NA	N	NA	0	NA	<1	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C) but no major bleeding episodes reported	Paraboschi et al 2020

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	surface	hydrophilic	negative
Mutated	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 94

PolyPhen-2 Prediction : benign (SCORE: 0.118)

SIFT Prediction : Tolerated (SCORE: 0.08)

PROVEAN Prediction : Deleterious (SCORE: -4.235)

Structural Implications:

FV: Asp107 is an exposed residue (surface accessibility value = 6 ).

FVa: Asp107 is an exposed residue (surface accessibility value = 6 ).

Asp107 is in a region of secondary structure within the FV domains.

The DSSP assignment for this residue is ... S.

Hint: Left click mouse | To rotate the structure
Hint: Rotate mousewheel | To zoom in/out the structure
Hint: Right click mouse | to use applet control options

Controls

The molecule can be rotated with the mouse holding the left button and the image can be magnified using the middle mouse button. Note 7KVE is the default structure.

To choose the structure you wish to inspect, please select the Structure at the bottom of the Options menu. If the amino acid is missing from the structure, it will not be labeled and you should select a different structure.

Right Click on the JMOL screen for more options.

Options

Spacefill
Cartoon
Wireframe
Trace
Backbone
Spin
Background
Disulphides
Domains
Alternative Colouring
Labels
Structure

Right Click on the molecule's screen for more options.

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

Factor V Gene (F5)

Variant Database