Intergenic recombination with HLA-C leads to a novel HLA-A*19 allele, HLA-A*2910, that is characterized by a functionally inactive amino acid exchange in the loop connecting the α2 and α3 domains†
2006
This report describes the HLA-A*29 allele (A*2910) that has been identified by sequence-based typing in an 8-year-old Turkish female with leukaemia during search for a family-related stem cell donor. The allele is characterized by a nucleotide substitution (Guanine to Adenine) in exon 3 at position 258, leading to an amino acid exchange from glutamic acid to lysine at position 177. From family analysis and sequence comparison, the HLA-A*2910 allele has arisen from intergenic recombination with HLA-C. Structurally, the amino acid exchange at position 177 is probably functionally inactive due to the location of this amino acid exchange in the loop connecting the α 2 and α 3 domains.
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