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http://purl.uniprot.org/citations/1782566http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1782566http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1782566http://www.w3.org/2000/01/rdf-schema#comment"The Birdshot choroidoretinopathy (BSCR) is an ocular disease strongly associated with HLA-A29. The HLA-A29 specificity can be split using immunoelectrofocusing in two subtypes A29.1 and A29.2. BSCR susceptibility is exclusively linked to the HLA-A29.2 molecule. The sequence of HLA-A29.2 was established (EMBL X60108 and found to be identical between patients and healthy individuals. A single difference was found (H----D) 102) in the extra cellular domains between HLA-A29.2 and HLA-A29.1. The HLA-A29 sub-types shares the consensus HLA class I sequence (D102). The mutation exhibited by HLA-A29.1 (H102) is unique to that molecule. The ancestral type is thus HLA-A29.2 that confers the susceptibility to BSCR whereas HLA-A29.1 has arisen from a more recent mutation conferring resistance to BSCR. Another single amino-acid difference between HLA-A29.1 and HLA-A29.2 was found in the intracytoplasmic part of the molecule, HLA-A29.2 exhibiting the HLA-A consensus sequence whereas A29.1 shares with AW33.1 the mutation S----F321. In addition, the A29 specificity was assigned to L and Q amino-acids at position 62-63, which can interact with peptides into the binding groove. No specific T or B epitope of susceptibility could be considered involving the region of the mutation discriminating HLA-A29.2 from HLA-A29.1. The HLA-A29.1 mutation is unable to interact with the T cell receptor and did not seem to induce significant structural changes in the peptide-binding groove. Conversely, its position suggests that the A29.1 mutation might interfere with the binding of an accessory molecule, the CD8 molecule being the most likely candidate for that role."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Betuel H."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Betuel H."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Cohen H.M."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Cohen H.M."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Cornillet P."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Cornillet P."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Lehoang P."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Lehoang P."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Prochnicka-Chalufour A."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Prochnicka-Chalufour A."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Tabary T."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/author"Tabary T."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/date"1991"xsd:gYear
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/date"1991"xsd:gYear
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/name"C. R. Acad. Sci. III, Sci. Vie"xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/name"C. R. Acad. Sci. III, Sci. Vie"xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/pages"599-605"xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/pages"599-605"xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/title"HLA-A29 sub-types and 'Birdshot' choroido-retinopathy susceptibility: a possible 'resistance motif' in the HLA-A29.1 molecule."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/title"HLA-A29 sub-types and 'Birdshot' choroido-retinopathy susceptibility: a possible 'resistance motif' in the HLA-A29.1 molecule."xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/volume"313"xsd:string
http://purl.uniprot.org/citations/1782566http://purl.uniprot.org/core/volume"313"xsd:string