ALFRED detailed record information
Synonyms: rs333 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
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.
|Allele Name||Allele Symbol||Description|
|32 bp Deletion||-||5'-ttttccatacattaaa-3'|
|32 bp Insertion||+||5'-ttttccat ACAG "24 bp" CCAG acattaaa-3'|
- 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