Figure 1. Sequences of Wild-Type and Mutant GPR54.

The wild-type cytosine–guanine–cytosine (CGC) sequence in GPR54 exon 5 encodes arginine (R) at codon 386 (R386). The heterozygous substitution of C for G (shown for our patient with an arrow) results in the substitution of proline (P) for R (R386P) in the carboxy-terminal tail of the protein (shown embedded in a cellular membrane). In the nucleotide sequences (shown immediately under the two plots), T denotes the nucleotide thymidine.