Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
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 *:
-
References and Comments:
Deam et al 2001Loss 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).