Sequence variants identified in this study and their location within putative transcription factor binding sites in the human SLC26A1 5′-flanking region. (a) Nucleotide sequence of the SLC26A1 5′-flanking region (NCBI accession number NT_037622.5) from −210 to is shown. Position denotes the putative transcription initiation site (NCBI accession number AK292747). Putative transcription factor binding motifs are boxed, and their position on the plus (+) or minus (−) strands is indicated: ZNF300: KRAB-containing zinc finger protein 300; PTX1: pituitary homeobox 1; HEN1: helix-loop-helix transcription factor; AP4: activator protein 4; BRN5: BM-5 POU domain factor; AP1: activator protein 1. (b) Allelic frequencies and accession numbers of nucleotide variants in the NCBI database: #accessed 7 November 2012. *Nucleotide numbering based on NCBI reference sequence NT_037622.
