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HLA ‐ B *38:55 Q : a new alternatively expressed allele identified in a three‐generation I talian family
Author(s) -
Fusco C.,
Azzarone R.,
Penta R.,
Canossi A.,
Di Iulio B.,
Toriello M.,
Auriemma L.,
Pagano M.,
Poggi V.,
Papola F.
Publication year - 2015
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12208
Subject(s) - allele , chemistry , exon , hla b , microbiology and biotechnology , amino acid , heavy chain , biology , biochemistry , gene
Summary The new allelic variant HLA ‐ B *38:55 Q 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 *38:55 Q undetectable by standard serological typing.