Factor XI Variant Database

In Depth Variant Analysis: c.803G>A (p.Arg268His)

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

c.803G>A

p.Arg268His (Legacy AA No. 250)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282734

Allele Frequency *:

0.000025

Variant Comments & Reference:

Homologue scanning mutagenesis studies of conformationally constrained synthetic peptides identified amino acid residues Arg268 (and Lys273) as being important for binding of FXI to platelets. Amino acid change at Arg268His is likely to cause disruption to normal platelet binding (but not as much as would Arg268Cys). Ho et al 2000, Duncan et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
356	9	F		24		Compound heterozygote		Not Reported	Patient has a bleeding Hx.	Duncan et al 2008
425	9	F	Australian	24		Compound heterozygote	c.717insT	Not Reported	Patient has a bleeding Hx.	Duncan et al 2008

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

Substitution Analysis:

Grantham Score : 29

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)

SIFT Prediction : Tolerated (SCORE: 0.08)

PROVEAN Prediction : Neutral (SCORE: -1.132)

Structural Implications:

Arg268 is an exposed residue (surface accessibility value = 6 ).

Arg268 is in a random coil area of the FXI structure.

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

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