In Depth Variant Analysis: c.168T>G (p.Cys56Trp)
Terms with a '*' next to them are explained on the Help Page .
c.168T>G
p.Cys56Trp (Legacy AA No. 38)
Variant Type:
Point
Domain:
Apple 1
Codon Change:
T>G
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Cys56 is a buried residue located in a random coil of Ap1 and is involved in the Cys50-Cys56 disulphide bridge. This disulphide bridge represents one of three conserved bridges that are responsible for the correct folding of the Ap domains. Therefore, Cys56Trp mutation is likely to significantly impair folding of the Ap1 domain. Expression studies reveal a secretion defect. Castaman et al 2005, Spena et al 2009Residue 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.