ABCMdb

PMID: 15593299

Harangi M, Kaminski WE, Fleck M, Orso E, Zeher M, Kiss E, Szekanecz Z, Zilahi E, Marienhagen J, Aslanidis C, Paragh G, Bolstad AI, Jonsson R, Schmitz G
Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome.
Eur J Immunol. 2005 Jan;35(1):305-17., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCA7 p.Asn718Thr ABCA7 p.His395Arg ABCA7 p.Thr319Ala ABCA7 p.Gln1686Arg ABCA7 p.Arg463His Of these, six represent non-synonymous nucleotide alterations (A955G, A1184G, G1388A, A2153C, C4580G, A5057G) giving rise to the following amino acid substitutions: Thr319Ala, His395Arg, Arg463His, Asn718Thr, Ala1527Gly, and Gln1686Arg, respectively. Login to comment 46 ABCA7 p.Asn718Thr ABCA7 p.His395Arg ABCA7 p.Thr319Ala ABCA7 p.Gln1686Arg ABCA7 p.Arg463His Genotyping of the ABCA7 allelic variants in the German control population revealed a consistent linkage pattern for the ABCA7 SNP Thr319Ala (nt 955), His395Arg (nt 1184), Arg463His (nt 1388), Asn718Thr (nt 2153), and Gln1686Arg (nt 1686), in each individual tested (not shown, Table 2). Login to comment 69 ABCA7 p.Asn718Thr ABCA7 p.His395Arg ABCA7 p.Thr319Ala ABCA7 p.Gln1686Arg ABCA7 p.Arg463His Comparison of the genotype frequencies of the ABCA7 SNP A955G (Thr319Ala), A1184G (His395Arg), G1388A (Arg463His), A2153C (Asn718Thr), C4580G (Ala1527Gly), and A5057G (Gln1686Arg) in the Norwegian, Hungarian and German study populations did not reveal consistent, significant differences between patients with Sjögren's syndrome and controls (Table 4). Login to comment 102 ABCA7 p.Asn718Thr ABCA7 p.His395Arg ABCA7 p.Thr319Ala ABCA7 p.Gln1686Arg ABCA7 p.Arg463His Analysis of the population frequencies of the ABCA7 allelic variants revealed consistent linkage of five polymorphic sites, including Thr319Ala, His395Arg, Arg463His, Asn718Thr, and Gln1686Arg. Login to comment 107 ABCA7 p.His395Arg ABCA7 p.Thr319Ala ABCA7 p.Arg463His Three of the linked polymorphisms (Thr319Ala- His395Arg-Arg463His) are localized within the putative first extracellular loop of ABCA7, which contains the epitope SS-N. The latter has been reported to represent an autoantigen ("SS-N") in Sjögren's syndrome patients [10, 11]. Login to comment