In Depth Variant Analysis:  c.166T>C (p.Cys56Arg)
Terms with a '*' next to them are explained on the Help Page .
c.166T>C
p.Cys56Arg (Legacy AA No. 38)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
36
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
251464
Allele Frequency *: 
0.000012
Variant Comments & Reference:
High prevalence in French Basque population. Mutant protein synthesized in BHK transfected cells but not secreted. Zivelin et al 2002, Esteban et al 2017Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Cys56 is a buried residue  (surface accessibility value = 0 ).
Cys56 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Cys56 is in a random coil area of the FXI 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.