Factor X Variant Database
ID: 6
FX:C% (extrinsic) 5
FX:C% (intrinsic)
FX:C% (unknown method)
Reported Bleeding Severity Not Reported
Case Gender Male
Comments on Casep.(Glu54Lys) likely cause of deficiency; brother of case 5
Functional Analysis Yes
Analysis Type Specific activity and activation tests
Reference Watzke et al 1990

The details of the variants found in this case are listed below

Variant ID No. of Cases Minor Allele Frequency Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic Comments on individual Variant Genotype of Variant Heterozygous Allele Type Effect Location in gene Variant (cDNA) Sequence Context Amino Acid No Protein Change Protein Domain
HGVS Legacy
30 14 TBA FX Vorarlberg; FX Vienna 2; WT AA 54 gamma-carboxylation (Gla) is functionally important; purified protein has full activity in intrinsic activation, only 15% in extrinsic; decreased affinity for Ca2+ Homozygous Point Missense Exon 2 c.160G>A GAA AAA 54 14 p.(Glu54Lys) Gla
63 11 0.004489 TBA FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) Heterozygous Point Missense Exon 5 c.424G>A GAG AAG 142 102 p.(Glu142Lys) EGF2