Factor XI Variant Database
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)Definition 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