Figure 2.

Genomic location of ADCK3 S616Lfs mutation and the mutant peptide sequence. (A) Genomic structure of the human ADCK3 gene is shown. All ADCK3 mutations reported in literature to date are shown in the gene and grouped by the average of patient's age of onset in each family. The novel mutation identified in this study is marked with a black star. #R271C and A304T are two compound heterozygous mutations detected within a previously reported family. D420Wfs, Q167Lfs,Y514C, T584del, L314_Q369del and G549S were reported in Lagier-Tourenne 2008.⁸ E551K, R213W, G272V, G272D and N465Dfs were reported in Mollet 2008.¹¹ R348X, R348X and L379X were reported in Gerald 2010.¹⁰ R271C, A304T, A304V, R299W and Y429C were reported in Horvath 2012.⁹ (B) Multiple species alignment shows this frameshift mutation changes several highly conserved amino acid codons in the terminal segment of ADCK3 and eliminates the original stop codon, thus extending the peptide by 81 amino acids.