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Mutations identified in LRPPRC. LRPPRC has 38 exons (blue) predicted to encode a 1,394-aa protein. The amino acid sequence corresponding to exons 9 and 35 are shown as well as the aligned sequences from mouse, rat, and Fugu. The exon 9 missense mutation, A354V, and the exon 35 truncation, C1277STOP, are shown in red. Conserved residues are shaded in gray. *, a stop codon.
