ABCA7 p.Arg463His
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PMID: 15593299
[PubMed]
Harangi M et al: "Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome."
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Sentence
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39
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.
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ABCA7 p.Arg463His 15593299:39:187
status: NEW46 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).
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ABCA7 p.Arg463His 15593299:46:171
status: NEW69 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).
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ABCA7 p.Arg463His 15593299:69:103
status: NEW102 Analysis of the population frequencies of the ABCA7 allelic variants revealed consistent linkage of five polymorphic sites, including Thr319Ala, His395Arg, Arg463His, Asn718Thr, and Gln1686Arg.
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ABCA7 p.Arg463His 15593299:102:156
status: NEW107 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].
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ABCA7 p.Arg463His 15593299:107:56
status: NEW