Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1381T>C
p.Trp461Arg (Legacy AA No. 421)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Odom et al 1994Legacy cDNA numbering in paper - Leytus et al 1986 (c.1406T>C)
c.1382G>A
p.Trp461* (Legacy AA No. 421)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Nonsense
Codon Change:
G>A
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Ferrarese et al 2019Variant results in premature chain termination. Truncated product has significantly reduced catalytic activity.