In-Depth Variant Analysis:  c.1335C>G (p.Arg445Gly)
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c.1335C>G
p.Arg445Gly (Legacy AA No. 405)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>G
No. of Patients Reported: 
5
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Loss of positive charge/ polar side chain (Arg) and replacement with Gly changes overall electrostatic potential and increases loop flexibility, disrupting native interactions and altering local conformation. Variant may also induce changes in neighbouring loop containing catalytic Ser419, altering FX catalytic activivty. Despite disrupting catalytic activity and local conformation, FX retains ligand binding sites (FX Taunton).Residue Information:
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Substitution Analysis:
Structural Implications:
Arg445 is an exposed residue  (surface accessibility value = 3 ).
Arg445 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Arg445 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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