title: Identification of two novel human CD1E alleles.
abstract: CD1 is a family of proteins structurally related to major histocompatibility complex (MHC) molecules and specialized in presenting lipids or glycolipids to T cells. In humans, there are five CD1 genes (CD1A to CD1E). It has been shown that, in contrast with classical MHC genes, CD1 loci display a very limited polymorphism. In the present work we describe two novel CD1E alleles found in two healthy Caucasian individuals. One allele differs from the wild-type by a point mutation resulting in a replacement of arginine at position 154 by a tryptophan. In the second allele we found a substitution of the leucine 184 by a proline.
authors.affiliation: Unidad de Inmunología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Mirones
authors.forename: M
authors.initials: M
authors.lastname: Oteo
authors.forename: J F
authors.initials: JF
authors.lastname: Parra-Cuadrado
authors.forename: E
authors.initials: E
authors.lastname: Martínez-Naves
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D018949:Antigens, CD1 / Q000737:chemistry* / Q000235:genetics* / Q000276:immunology; D001483:Base Sequence; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000276:immunology; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary
chemical_list: D018949:Antigens, CD1; C417738:CD1e antigen