In Depth Variant Analysis:  c.1546G>A (p.Val516Met)
Terms with a '*' next to them are explained on the Help Page .
c.1546G>A
p.Val516Met (Legacy AA No. 498)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
7
Allele Number *: 
251456
Allele Frequency *: 
0.000028
Variant Comments & Reference:
Val516 is highly conserved across different species. The Val516Met mutation generates an ectopic Met residue close to the disulphide bond between C514 and C581. Bioinformatics studies using surface mapping of the evolutionary conservation level revealed that Val498 is a functionally important residue. Kwon et al 2008Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Val516 is a buried residue  (surface accessibility value = 0 ).
Val516 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Val516 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
|
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.