Table 8.

In-silico analysis of transcription factor binding site motifs at SNP sites in the PRKAG3 promoter region

SNPs	Putative transcription factors	Predictor	Recognition sequence	Created with	Start	End
g.-995A>G	CCAAT/enhancer-binding protein (α and ß)	TFSEARCH	CCCTTAGGCAATAT a	A	−1004	−991
		TESS	CTTAGGCAATAT
		MatInspector	CCCCTTAGGCAATAT			−991
		Match™ ALIBABA2	CCCCTTAGGCAATATAGG			−991
					−1002	−989
					−1005
	HNF-4	Match™	CCTTAGGCAATA AA c			−992
						−992
			CCTGCCCCTTAGGCAAT		−1005
					−100	−1010
g.-480C>T	Pax-4	Match™	CCGGGACCACCCACGAACTCC b, c	C	−481	−460
g.-461C>T	SP1	TFSEARCH	GCTGGGGAGGCGGAG a b	C	−472	−458
		TESS	CGGAGT GGGGAGGCGGA		−462	−457
		ALIBABA2			−469	−459
g.-311A>G	IK-1	Match™ TFSEARCH	CGGTGGGAACACA a, c	G	−315	−303
g.-221G>A	Myoblast Determining Factors	MatInspector	CGAGGACAGGTGAGAAG b, c	G	−221	−205
g.-30C>T	RFX1	Match™	CTGTATCTGGGCAACAC b, c	T	−33	−17

SNP positions in recognition sequence are underlined. No transcription factor motifs were found in positions g.-968G>A, g.-671A>G, g.-583C>T, g.-158C>G.

^a Transcription factor binding site prediction changes on substitution to alternate allele.

^b Minus strand.

^c Muscle specific.