Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.787G>A
p.Gly263Arg (Legacy AA No. 223)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Jayandharan et al 2005Introduction of positive charge may disrupt protein folding and perturb catalytic triad.
c.788G>T
p.Gly263Val (Legacy AA No. 223)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Morishita et al 2001; Uprichard & Perry 2002(FX Ohmura).