In Depth Variant Analysis:  c.365G>A (p.Gly122Asp)
Terms with a '*' next to them are explained on the Help Page .
c.365G>A
p.Gly122Asp (Legacy AA No. 104)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
7
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
282668
Allele Frequency *: 
0.000007
Variant Comments & Reference:
Mitchell et al 2003Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Gly122 is a buried residue  (surface accessibility value = 1 ).
Gly122 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Gly122 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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.