ABCA7 p.Asn718Thr
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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
Comment
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.Asn718Thr 15593299:39:198
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.Asn718Thr 15593299:46:192
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.Asn718Thr 15593299:69:123
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.Asn718Thr 15593299:102:167
status: NEW