Fig. 2: Folding energies and stem lengths of folded CAG TNRs found in HD patient RNAs correlate with disease severity and/or onset.

A Location of the CAG TNR in exon 1 of the HTT gene [71]. B Predicted secondary structure of the section of the HTT mRNAs containing the CAG TNRs (plus 15 nt at either end) at different lengths found in normal, intermediate, reduced, or full penetrance patients. The length of the double stranded CAG TNRs in the stem regions in each HP is given with the longest contiguous one in red. ΔG values (in kcal/mol) are given in blue. C, D Predicted secondary structure of the section of HTT either containing the predominant mutant length of 40 CAG TNRs (the reference sequence) (C) or the rare mutant length of 42 CAG TNRs (the loss of inhibition/LOI mutant) (D) (plus 15 nts on either side). Secondary structures were predicted using RNAfold. Longest uninterrupted double stranded CAG repeats are labeled with repeat numbers in red. Folding energies are given.