Factor X Variant Database

In-Depth Variant Analysis: c.871C>T (p.Arg291Trp)

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

c.871C>T

p.Arg291Trp (Legacy AA No. 251)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282488

Allele Frequency *:

0.000021

Variant Comments & Reference:

Variant changes local electrostatic potential within FX. Also variant might alter conformation of Ca2+ binding site in the serine protease domain, potentially exposing protease domain to proteolytic cleavage (FX Padua). Legacy cDNA numbering in paper - unknown origin (c.875C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
269	56	F			30			Homozygous		Asymptomatic	No bleeding history. Related to pa_id: 270.	Girolami et al 2004
270		F						Heterozygous		Not Reported	Related to pa_id: 269.	Girolami et al 2004

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	Trp	aromatic	cyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 101

PolyPhen-2 Prediction : Benign (SCORE: 0.098)

SIFT Prediction : Tolerated (SCORE: 0.18)

PROVEAN Prediction : Neutral (SCORE: -1.663)

Structural Implications:

Arg291 is a buried residue (surface accessibility value = 0 ).

Arg291 is in a region of secondary structure within the FX 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.

Right Click on the JMOL screen for more options.

Options

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

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