Factor XI Variant Database

In Depth Variant Analysis: c.454G>C (p.Ala152Pro)

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

c.454G>C

p.Ala152Pro (Legacy AA No. 134)

Variant Type:

Point

Domain:

Apple 2

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251280

Allele Frequency *:

0.000004

Variant Comments & Reference:

Saunders et al 2009

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral
Mutated	Pro	-	cyclic	medium	surface	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 27

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -1.588)

Structural Implications:

Ala152 is a buried residue (surface accessibility value = 0 ).

Ala152 is in a region of secondary structure within the FXI domains.

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

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