Appendix 1 of Bennett, Mol Vis 2013; 19:835-844.

Appendix 1. Genetic variation in the iron response element (IRE) and immediate flanking 5´-untranslated region (5´-UTR) of the ferritin light chain (FTL) gene.

A: Schematic of FTL-IRE sequence (shaded) showing location of point-mutations (red), deletions >6bp (bold), deletions 2–6bp (bold-underline), and 19 variants, listed in dbSNP (green). The IRE sequence spans ~75 nucleotides between −125c and −199 g, and forms a hairpin-like structure in transcribed mRNA with 5′- and 3′- stem regions (gray), a hexa-nucleotide loop (yellow), and unpaired 5′-stem regions (cyan). The first base, A, of the translation start-site (ATG) is numbered +1. The transcription start-site is located at nucleotide −199 g and is numbered 1 in blue. Ex1->=start of exon-1 at nucleotide −282a. B: Sequence alignment of human (Hs) versus mouse (Mm) IRE showing six mismatches (red) in the 5′- and 3′- stem regions but not in the loop region (yellow). To access the data, click or select the words “Appendix 1.”