Transcription factor motif analysis of the ALAS2 promoter. (A) Sequence of the ALAS2 promoter, exon 1 and part of intron 1. Putative transcription factor binding sites are boxed with the factor identified above and an arrow indicating the orientation relative to the normal convention. The mutation -206C>G is boxed. HpaII sites are underlined. (B) Alignments of consensus sequences (MatInspector matrices) for (i) Cdx2, (ii) RORE, and (iii) MEF2. Dots indicate bases in the normal ALAS2 promoter aligning with the motif consensus. A vertical arrow marks the C that is mutated to a G in the proband.