Abstract
A Nepalese heterozygous carrier of a CCR5 mutant, designated 118delF, was characterized. There was a 3 basepair deletion at 352-354 in the CCR5 open reading frame, resulting in the deletion of the phe-118 residue located in the third transmembrane domain. The mutant protein has retained antigen specificity near the third extra-cellular loop (ECL3), but that of ECL2 is markedly reduced. The mutation has also abrogated HIV co-receptor activity. Clinically, the HIV disease had progressed slowly.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Amino Acid Sequence
-
HIV Infections / genetics*
-
HIV Infections / immunology
-
HIV-1 / genetics*
-
HIV-1 / immunology
-
Heterozygote
-
Humans
-
Mutation / genetics
-
Mutation / immunology
-
RNA, Messenger / analysis
-
RNA, Viral / analysis
-
Receptors, CCR5 / genetics*
-
Receptors, CCR5 / immunology
-
Receptors, Chemokine / genetics
-
Receptors, Chemokine / immunology
-
Receptors, HIV / genetics*
-
Receptors, HIV / immunology
-
Sequence Deletion
Substances
-
RNA, Messenger
-
RNA, Viral
-
Receptors, CCR5
-
Receptors, Chemokine
-
Receptors, HIV