In-Depth Variant Analysis:  c.1147C>T (p.Pro383Ser)
Terms with a '*' next to them are explained on the Help Page .
c.1147C>T
p.Pro383Ser (Legacy AA No. 343)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
25
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant (Ser) likely interacts with nearby Thr318 through H-bonding, inducing conformational change in FX structure, changing structure of catalytic region, hindering FX activation (FX Friuli).Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Pro383 is an exposed residue  (surface accessibility value = 2 ).
Pro383 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Pro383 is in a region of secondary structure within the FX 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.