Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1269C>G
p.His423Gln (Legacy AA No. 383)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>G
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Odom et al 1994Residue 423 lies in close proximity to Ser419 of the catalytic triad, thus substitution of His with Gln is likely to affect catalytic triad interactions, potentially impacting on FX catalytic activity. Legacy cDNA numbering in paper - Leytus et al 1986 (c.1294C>G)