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

BMC Medical Genomics

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-FOX2^a	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, MZF1^b	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.

ISSN: 1755-8794