Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1822T>C
p.Tyr608His (Legacy AA No. 590)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Tyr608His lies near the catalytic triad and the change to basic His may interfere with the appropriate conformation of the protease domain. Fard-Esfahani et al 2008 c.1824C>A
p.Tyr608* (Legacy AA No. 590)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
C>A
Variant Effect:
Nonsense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-