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. Author manuscript; available in PMC: 2015 Mar 21.
Published in final edited form as: Eur J Hum Genet. 2008 Apr 9;16(6):666–672. doi: 10.1038/ejhg.2008.61

Figure 1.

Figure 1

Four allelic classes of the FMR1 gene in humans. For each allele, the size of the CGG repeat in the 5′-UTR of FMR1 is indicated in blue at the left of the gene schematic. The level of transcription is indicated by the width of the arrow beneath each allele class. Increased transcription is associated with premutation alleles, whereas full mutations are hypermethylated, as indicated by the red hashmarks, and transcriptionally silent. Despite the ACMG definition, the smallest premutation allele known to expand to the full mutation in a single generation had 59 repeats.