Zhao Xiu-Ying, Lee Shui-Shan, Wong Ka-Hing, Chan Kenny Chi-Wai, He Zhi-Min, Ma Selene, Ng Fai, Chan Chris Chung-Sing, Ho Tina, Ng Mun-Hon, Zheng Bo-Jian
HIV Research Laboratories, Department of Microbiology, the University of Hong Kong, Hong Kong, China.
AIDS. 2004 Aug 20;18(12):1729-32. doi: 10.1097/01.aids.0000131382.15232.dc.
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.
