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

Name	ALFRED UID	Locus Name	Locus Symbol
32bp Ins/Del	SI000676T	Chemokine (C-C motif) receptor 5	CCR5

Fst	Avg Het	# Populations Typed
0.066	0.047	263

Synonyms: rs333 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: GenBank sequence Record Typing Protocol Record dbSNP rs# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is a 32-bp deletion polymorphism in the coding region of CCR5 gene. This deletion results in the elimination of ten amino acid residues from the binding site of CCR5. As a result , the translated receptor is functionally inactive and cannot be used by HIV-1 as a coreceptor to gain entry into the cell. This mechanism underlies the protective character of CCR5del32 mutation and hence the deletion homozygotes are protected against HIV-1 infection.
Alleles:

Allele Name	Allele Symbol	Description
32 bp Deletion	-	5'-ttttccatacattaaa-3'
32 bp Insertion	+	5'-ttttccat ACAG "24 bp" CCAG acattaaa-3'

References:
- Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, Horuk R, MacDonald ME, Stuhlmann H, Koup RA, Landau NR. "Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection". Cell 86:367-77. (1996) Online citation.

© 2012 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