Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1151A>T
p.Tyr384Phe (Legacy AA No. 344)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
A>T
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Fung, Hay & MacGillivray 1985Legacy cDNA numbering in paper - Leytus et al 1986 (c.1176A>T)
c.1151A>G
p.Tyr384Cys (Legacy AA No. 344)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
A>G
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
2
Allele Number *:
250544
Allele Frequency *:
0.000008
References and Comments:
Herrmann et al 2006; Girolami et al 2018 c.1152C>A
p.Tyr384* (Legacy AA No. 344)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Nonsense
Codon Change:
C>A
No. of Patients Reported:
4
Phenotype:
II
Allele Count *:
1
Allele Number *:
250574
Allele Frequency *:
0.000004
References and Comments:
Lu et al 2020Variant likely destabilizes structure of catalytic site, diminishing FX activity and limiting secretion.