|
Variant ID: 333 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.1478C>T | LRG Change | LRG_583:g.24848C>T | Genomic Change | 24848C>T | Genomic HGVS Change | NG_008051.1:g.24848C>T |
| Amino Acid Change | p.(Thr493Ile) (Legacy AA No. 475) | |
| Domain | Serine Protease | |
| Codon Change | ACA ATA | |
| Location | Exon 12 | |
| 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 | Recombinant variant poorly expressed: variant abolishes N-linked glycosylation site known to be utilised in vivo; however requirement appears to be for Thr (or Ser) but not for glycosylation |
For missense variants click Main Menu AA Alignments link to view amino-acid sequence comparison.
The details of the cases reported with the above variant are listed below
| Case ID | Comments on Case | Other Variants found in case |
Genotype | FXI:C (%) | FXI:Ag (%) | Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Reference |
|---|---|---|---|---|---|---|---|
| 296 | Asymptomatic microscopic haematuria and bleeding after dental extraction | Heterozygous | 39 | 27 | Mild | McVey et al 2005 | |
| 375 | No clinical description in publication | Heterozygous | 39 | Not Reported | Mitchell et al 2006 | ||
| 376 | No clinical description in publication | Heterozygous | 46 | Not Reported | Mitchell et al 2006 | ||
| 162 | Conference abstract: "mild deficiency" | Heterozygous | Not Reported | Bolton-Maggs et al 2003 | |||
| 161 | Conference abstract: "mild deficiency" | Heterozygous | Not Reported | Bolton-Maggs et al 2003 | |||
| 478 | Heterozygous | 46 | Not Reported | Duncan et al 2008 | |||
| 525 | Heterozygous | 40 | 50 | Asymptomatic | Quelin et al 2009 |