In Depth Variant Analysis:  c.728C>T (p.Ser243Phe)
Terms with a '*' next to them are explained on the Help Page .
c.728C>T
p.Ser243Phe (Legacy AA No. 225)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
31376
Allele Frequency *: 
0.000032
Variant Comments & Reference:
In single transient transfections, FXI-Phe243 levels in media are low compared with FXI-Wild-Type (WT). This appears to be due to reduced secretion, as FXI-Phe243 levels in lysates are comparable to FXI-WT. Co-transfection of FXI-WT with FXI-Phe243 results in reduced FXI in media compared with FXI-WT control, with little change in intracellular protein. Western blots of intracellular protein shows that FXI-Phe243 forms intracellular dimers similar to FXI-WT, indicating that poor secretion of this mutant is not due to a failure to form dimers. Kravtsov et al 2005Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Ser243 is a buried residue  (surface accessibility value = 1 ).
Ser243 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Ser243 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.