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Table 3 In silico prediction of splice sites, transcription factor binding sites and o-glycosylation sites of detected variants in SH2B1

From: Mutation screen in the GWAS derived obesity gene SH2B1including functional analyses of detected variants

PROGRAM    ESEfinder ESRSearch RESCUE_ESE TFSearch Consite OGPET
SNPs Amino acid changes DNA position Splice sites Splice sites Splice sites transcription factor binding sites transcription factor binding sites O-glycosylation site prediciton [%]
rs147094247 Thr175Asp g.2749C/A changed changed not changed not changed not changed 33.1829
rs7498665 Thr484Ala g.8164A/G changed changed not changed not changed not changed ---
rs60604881 --- g.8250C/T changed SRp40, FOX1-FOX2a not changed not changed not changed ---
rs62037368 --- g.8738A/G changed not changed not changed not changed COUP-TF, c-REL b ---
rs62037369 --- g.8764C/T changed changed not changed GATA1, GATA2, MZF1b not changed ---
g.9483C/T βThr656Ile, γPro674Ser g.9483C/T changed not changed not changed GATA1, GATA2 b not changed 53.5329
g.10182C/A --- g.10182C/A changed PESS a not changed not changed not changed ---
  1. a particular changed predicted splice sites, b particular changed predicted transcription factor binding sites.
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BMC Medical Genomics

ISSN: 1755-8794

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