Factor XI Variant Database

In Depth Variant Analysis: c.1786G>A (p.Gly596Cys)

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

c.1786G>A

p.Gly596Cys (Legacy AA No. 578)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Gly596Cys causes the introduction of a sulfhydryl group in the catalytic domain of FXI. Castaman et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
310	43	F	Italian	<1	<2	Compound heterozygote		Severe	Asymptomatic	Castaman et al 2008

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Cys	-	acyclic	medium	buried	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 159

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -7.958)

Structural Implications:

Gly596 is an exposed residue (surface accessibility value = 3 ).

Gly596 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