Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1180A>C
p.Ser394Arg (Legacy AA No. 354)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
A>C
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Jayandharan et al 2005Introduction of Arg, a larger and positively charged residue, alters the electrostatic potential within the catalytic domain and has a steric effect, disrupting FX structure and function.