In-Depth Variant Analysis:  c.161A>G (p.Glu54Gly)
Terms with a '*' next to them are explained on the Help Page .
c.161A>G
p.Glu54Gly (Legacy AA No. 14)
Variant Type: 
Point
Domain: 
Gla domain
Location: 
Exon 2
Variant Effect: 
Missense
Codon Change: 
A>G
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251490
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Variant alters FX binding affinity for Ca2+ and disrupts standard light chain interactions (FX Ketchican).Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Glu54 is an exposed residue  (surface accessibility value = 4 ).
Glu54 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... I.
Glu54 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... I.
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.