Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1556G>A
p.Trp519* (Legacy AA No. 501)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>A
Variant Effect:
Nonsense
No. of Patients Reported:
14
Phenotype:
I
Allele Count *:
8
Allele Number *:
251434
Allele Frequency *:
0.000032
Variant Comments & Reference:
Disrupts catalytic domain structure. Saunders et al 2005, Colakoglu et al 2018, Zhang et al 2020, Yang et al 2021Structural Interpretation:
Structural analysis cannot be performed on this (Point | Nonsense) variant. c.1556G>C
p.Trp519Ser (Legacy AA No. 501)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Variant likely deleterious. Shao et al 2016, Liu et al 2019 c.1557G>C
p.Trp519Cys (Legacy AA No. 501)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
1
Allele Number *:
251432
Allele Frequency *:
0.000004