Factor X Variant Database
Variant
ID: 30
Type Point
Effect Missense
cDNA Change c.160G>A
Amino Acid Change p.(Glu54Lys) (Legacy AA No. 14)
Domain Gla
Sequence Context GAA > AAA
Location Exon 2
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant 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+

For missense variants click here to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Other Variants
found in case
Genotype FX:C (%) intrinsic FX:C (%) extrinsic FX:C (%) RVV FX:C (%) unknown FX:Ag (%) Reported
Bleeding Severity
Gender of Case Published Reference Comments on Case
269
-
Heterozygous c.50 Asymptomatic Not Reported Herrmann et al 2006
245
-
Homozygous <1 Mild Male Herrmann et al 2006 Epistaxis and gum bleeds
101
-
Homozygous 1 37 Asymptomatic Not Reported Millar et al 2000 Sibling of case 98
102
-
Homozygous 2 Asymptomatic Not Reported Millar et al 2000 Sibling of case 98
99
-
Heterozygous 42 62 Asymptomatic Male Millar et al 2000 Father of case 98
100
-
Heterozygous 35 42 Asymptomatic Not Reported Millar et al 2000 Sibling of case 98
98
-
Homozygous 1 40 Asymptomatic Not Reported Millar et al 2000
78
1
Heterozygous 56 68 Not Reported Not Reported Forberg et al 2000 Sibling of case 76
77
1
Homozygous <1 24 Not Reported Female Forberg et al 2000 Sister of case 76
76
1
Homozygous <1 30 18 20 Mild Female Forberg et al 2000 Mild bruising since childhood; no postoperative bleeding
7
1
Homozygous 8 Not Reported Male Watzke et al 1990 p.(Glu54Lys) likely cause of deficiency; brother of case 5
6
1
Homozygous 5 Not Reported Male Watzke et al 1990 p.(Glu54Lys) likely cause of deficiency; brother of case 5
5
1
Homozygous 5 25 15 20 Mild Female Watzke et al 1990 Mild bruising since childhood; p.(Glu54Lys) likely cause of deficiency
574
-
Homozygous 3 Asymptomatic Female van Dievoet et al 2018 Consanguineous parents