Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1351A>T
p.Ile451Phe (Legacy AA No. 411)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
A>T
No. of Patients Reported:
6
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Deam et al 2003; Mota et al 2010Substitution of Ile with Phe leads to large conformational change, altering FX affinity for Na+, thereby altering FX catalytic activity (Na+ needed to convert FXa into a more enzymatically active form) (FX Leicester). Legacy cDNA numbering in paper - unknown origin (c.1354A>T)