In Depth Variant Analysis: c.976C>T (p.Arg326Cys)
Terms with a '*' next to them are explained on the Help Page .
c.976C>T
p.Arg326Cys (Legacy AA No. 308)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
6
Allele Number *:
251384
Allele Frequency *:
0.000024
Variant Comments & Reference:
Introduction of a Cys residue may disrupt disulphide bridge formation. Arg326 lies close to the part of the Ap4 domain responsible for extensive non-covalent interactions between the FXI monomers. Saunders et al 2009Residue Information:
| Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
|---|---|---|---|---|---|---|---|
| |
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Arg326 is a buried residue (surface accessibility value = 1 ).
Arg326 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Arg326 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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.