Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1498T>C
p.Cys500Arg (Legacy AA No. 482)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
2
Allele Number *:
251430
Allele Frequency *:
0.000008
Variant Comments & Reference:
Cys500Arg breaks the disulphide bridge between Cys500-Cys380. Saunders et al 2009 c.1500C>G
p.Cys500Trp (Legacy AA No. 482)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
C>G
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
1
Allele Number *:
251420
Allele Frequency *:
0.000004