title: Confirmation of allele HLA-A*3116 found in a family of a leukaemia patient with Caucasian and Caribbean origin.
abstract: We confirm allele HLA-A*3116 that we found in the family of a leukaemia patient of mixed Caucasian and Caribbean origin by sequence based typing. This allele is closest related to HLA-A*310102 with one nucleotide replacement at position 221 (C>T) leading to an amino acid substitution at position 50 of the mature protein from proline to leucine. As the amino acid at position 50 in the alpha 1 domain is part of the peptide-binding region, this change could be relevant for the functionality in peptide presentation.
authors.affiliation: German Red Cross Donor Service Baden-Wuerttemberg-Hessen, Institute for Transfusion Medicine and Immunohaematology, Frankfurt, Germany.
authors.forename: P S
authors.initials: PS
authors.lastname: Skrablin
authors.forename: V
authors.initials: V
authors.lastname: Brixner
authors.forename: R
authors.initials: R
authors.lastname: Richter
authors.forename: A
authors.initials: A
authors.lastname: Boehme
authors.forename: E
authors.initials: E
authors.lastname: Seifried
authors.forename: C
authors.initials: C
authors.lastname: Seidl
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D044383:Black People; D017691:Caribbean Region; D005260:Female; D015234:HLA-A Antigens / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000737:chemistry; D008297:Male; D008969:Molecular Sequence Data; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000208:ethnology* / Q000235:genetics*; D011392:Proline / Q000737:chemistry; D012689:Sequence Homology, Nucleic Acid; D044465:White People
chemical_list: D015234:HLA-A Antigens; D011392:Proline; D007930:Leucine