Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1087G>A
p.Gly363Ser (Legacy AA No. 323)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Millar et al 2000Substitution of Gly with larger residue leads to conformational change and protein misfolding.