|
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) 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
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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 | Heterozygous | 56 | 68 | Not Reported | Not Reported | Forberg et al 2000 | Sibling of case 76 | ||||
| 77 | Homozygous | <1 | 24 | Not Reported | Female | Forberg et al 2000 | Sister of case 76 | ||||
| 76 | Homozygous | <1 | 30 | 18 | 20 | Mild | Female | Forberg et al 2000 | Mild bruising since childhood; no postoperative bleeding | ||
| 7 | Homozygous | 8 | Not Reported | Male | Watzke et al 1990 | p.(Glu54Lys) likely cause of deficiency; brother of case 5 | |||||
| 6 | Homozygous | 5 | Not Reported | Male | Watzke et al 1990 | p.(Glu54Lys) likely cause of deficiency; brother of case 5 | |||||
| 5 | 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 |