Gene "VWF"
Found 1 record
Gene information
Gene symbol:
VWF
See related:
Ensembl: ENSG00000110799, Gene ID: 7450
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered VWF biosynthesis(1)  
Detail：
  • Variant 1:
    VWF:p.Gln2657*
    Gene:
    VWF
    Genomic location:
    dbSNP ID:
    Target disease:
    Von Willebrand's Disease(DOID_12531)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered VWF biosynthesis 
    Evidence:
    Study on mouse strains 
    Effect:
    A single SNP (+7970G>A) and the associated nonsynonymous amino acid change (R2657Q) confers a significant increase in VWF biosynthesis from the CASA/RkJ Vwf allele.
    Reference:
    PMID16873672
    Title:
    Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene.
    Species studied:
    Mouse
    Abstract:
    Both genetic and environmental influences contribute to the wide variation in plasma von Willebrand factor (VWF) levels observed in humans. Inbred mouse strains also have highly variable plasma VWF levels, providing a convenient model in which to study genetic modifiers of VWF. Previously, we identified a major modifier of VWF levels in the mouse (Mvwf1) as a regulatory mutation in murine Galgt2. We now report the identification of an additional murine VWF modifier (Mvwf2). Mvwf2 accounts for approximately 16% of the 8-fold plasma VWF variation (or approximately 25% of the genetic variation) observed between the A/J and CASA/RkJ strains and maps to the murine Vwf gene itself. Twenty SNPs were identified within the coding regions of the A/J and CASA/RkJ Vwf alleles, and in vitro analysis of recombinant VWF demonstrated that a single SNP (+7970G>A) and the associated nonsynonymous amino acid change (R2657Q) confers a significant increase in VWF biosynthesis from the CASA/RkJ Vwf allele. This change appears to represent a unique gain of function that likely explains the mechanism of Mvwf2 in vivo. The identification of a natural Vwf gene variant among inbred mice affecting biosynthesis suggests that similar genetic variation may contribute to the wide range of VWF levels observed in humans.