Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.871C>T
p.Arg291Trp (Legacy AA No. 251)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
2
Phenotype:
II
Allele Count *:
6
Allele Number *:
282488
Allele Frequency *:
0.000021
References and Comments:
Girolami et al 2004Variant changes local electrostatic potential within FX. Also variant might alter conformation of Ca2+ binding site in the serine protease domain, potentially exposing protease domain to proteolytic cleavage (FX Padua). Legacy cDNA numbering in paper - unknown origin (c.875C>T)