ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
Arg506GlnSI001216KCoagulation factor V (proaccelerin, labile factor)F5
FstAvg Het# Populations Typed
0.020.04212
Synonyms: rs6025 ; Factor V Leiden ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs # Record   HGMD Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This polymorphism is due to G->A substitution at nucleotide position 1691 in exon 10 (11 nucleotides 5 of the start of intron 10)of the gene.This missense mutation predicts the replacement of Arg506(CGA) by Gln (CAA) in one of the cleavage sites for activated protein C.This mutation is known as factor V Leiden (FVL) mutation.This mutation has been known to be associated with resistance to degradation by activated protein C, a functional abnormality of homeostatis associated with increased risk of venous thromboembolism.(PMID :7877648)
Alleles:
Allele NameAllele SymbolDescription
Codon 506 GlnQ5' - agcagatccctggacagg CAA ggaatacaggtattttgtc - 3'
Codon 506 ArgR5' - agcagatccctggacagg CGA ggaatacaggtattttgtc - 3'

References:
- Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. "Mutation in blood coagulation factor V associated with resistance to activated protein C". Nature 369:64-7. (1994)
Online citation.

- Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. "Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men". N Engl J Med. 332:912-7. (1995) Online citation.


© 2014 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan