title: HLA-B*38:55Q: a new alternatively expressed allele identified in a three-generation Italian family.
abstract: The new allelic variant HLA-B*38:55Q differs from the closest related B*38:01:01 by one nucleotide substitution at position 373 in exon 3 (TGC>CGC). This results in a difference of one amino acid at residue 101 of the HLA-B heavy chain, from a neutral-polar Cys to a basic-polar Arg, thus impairing disulphide bridge formation in the alpha-2 domain. This alteration of the secondary structure probably affects the maturation of the heavy chain and the level of surface expression, making the HLA-B*38:55Q undetectable by standard serological typing.
authors.affiliation: Ba.S.C.O, Oncohaematology Department, A.O.R.N. Santobono-Pausilipon of Napoli, Napoli, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Fusco
authors.affiliation: Regional Centre of Immunohaematology and Tissue Typing (ASL 1) of L'Aquila, L'Aquila, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Azzarone
authors.affiliation: Ba.S.C.O, Oncohaematology Department, A.O.R.N. Santobono-Pausilipon of Napoli, Napoli, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Penta
authors.affiliation: CNR Institute of Translational Pharmacology, L'Aquila, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Canossi
authors.affiliation: Regional Centre of Immunohaematology and Tissue Typing (ASL 1) of L'Aquila, L'Aquila, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Di Iulio
authors.affiliation: Ba.S.C.O, Oncohaematology Department, A.O.R.N. Santobono-Pausilipon of Napoli, Napoli, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Toriello
authors.affiliation: Ba.S.C.O, Oncohaematology Department, A.O.R.N. Santobono-Pausilipon of Napoli, Napoli, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Auriemma
authors.affiliation: Ba.S.C.O, Oncohaematology Department, A.O.R.N. Santobono-Pausilipon of Napoli, Napoli, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Pagano
authors.affiliation: Ba.S.C.O, Oncohaematology Department, A.O.R.N. Santobono-Pausilipon of Napoli, Napoli, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Poggi
authors.affiliation: Regional Centre of Immunohaematology and Tissue Typing (ASL 1) of L'Aquila, L'Aquila, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Papola
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D005091:Exons; D005786:Gene Expression Regulation; D015235:HLA-B Antigens / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017433:Protein Structure, Secondary; D016415:Sequence Alignment; D044465:White People
chemical_list: D015235:HLA-B Antigens