Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1262G>A
p.Gly421Asp (Legacy AA No. 381)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
13
Phenotype:
II
Allele Count *:
5
Allele Number *:
282144
Allele Frequency *:
0.000018
References and Comments:
Camire et al 2001; Uprichard & Perry 2002; Pinotti et al 2003Bulky charged nature of Asp side-chain disrupts key active site interactions, disrupting FX activity and function.