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. 2012 Dec 27;5:65. doi: 10.1186/1755-8794-5-65

Table 3.

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

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 ---

a particular changed predicted splice sites, b particular changed predicted transcription factor binding sites.