Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1030C>T
p.Pro344Ser (Legacy AA No. 304)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Miyata et al 1998Variant destabilizes FX hydrophobic core, disrupting interactions between EGF-2 and protease domains, leading to impaired secretion (FX Nice II).