Skip to main content

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.