Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1270G>T
p.Val424Phe (Legacy AA No. 384)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
1
Allele Number *:
250714
Allele Frequency *:
0.000004
References and Comments:
Zheng et al 2011Residue 424 lies in close proximity to Ser419 of the catalytic triad, thus substitution of Val with Phe is likely to affect catalytic triad interactions, potentially impacting on FX catalytic activity.
c.1271T>C
p.Val424Ala (Legacy AA No. 384)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-