In-Depth Variant Analysis:  c.964G>A (p.Asp322Asn)
Terms with a '*' next to them are explained on the Help Page .
c.964G>A
p.Asp322Asn (Legacy AA No. 282)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
15
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Substitution of active site Asp for Asn significantly affects FX catalytic activity (FX Stockton).Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Asp322 is a buried residue  (surface accessibility value = 0 ).
Asp322 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Asp322 is in a random coil area of the FX 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
|
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.