HLA- B*38:55 Q: a new alternatively expressed allele identified in a three-generation Italian family.

Autor:	Fusco, C., Azzarone, R., Penta, R., Canossi, A., Di Iulio, B., Toriello, M., Auriemma, L., Pagano, M., Poggi, V., Papola, F.
Předmět:	ALLELES GENETIC polymorphisms AMINO acids PEPTIDES HEMATOPOIETIC stem cells
Zdroj:	International Journal of Immunogenetics; Aug2015, Vol. 42 Issue 4, p294-296, 3p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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