Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1332G>A
p.Ala444Thr (Legacy AA No. 404)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
3
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Deam et al 2001Variant induces conformational changes, possibly disrupting the nearby disulfide bond Cys415-Cys443 and disturbing the position of the catalytic Ser419. Variant likely causes complete FX protein unfolding (FX Nottingham).