In Depth Variant Analysis:  c.290G>C (p.Gly97Ala)
Terms with a '*' next to them are explained on the Help Page .
c.290G>C
p.Gly97Ala (Legacy AA No. 79)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Gly97Ala occurs in the C terminal portion of Ap1 domain, which contains the binding sites for HK, thrombin and prothrombin. Alanine at position 97 is predicted to introduce two novel hydrogen bonds with the nearby Phe59, probably affecting the local conformation of the protein. Gly97 is strictly conserved in four FXI apple domains of all species and also in kallikrein apple domains. Castaman et al 2008Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Gly97 is a buried residue  (surface accessibility value = 0 ).
Gly97 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Gly97 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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.