Schematic representation of the desmuslin gene and protein. Desmuslin protein structure, genomic organization, approximate location of SNPs identified in this study and primer pairs used to amplify the entire coding sequence are indicated. A comparison of the DMN cDNA sequence with its related genomic DNA led to the identification of 5 exons ranging from 71 bp (exon 3) to 2447 bp (exon 4). The exact start of transcription in exon 1 and the termination of transcription at the end of exon 5 are unknown. Unlike the brain DMN cDNA, muscle DMN cDNA does not contain the sequence between exons 4 and 5 (indicated by an open box). The locations of the 21 SNPs are indicated by arrows; the 12 SNPs that alter an amino acid codon are shown in red and the 9 silent SNPs are shown in black. The exact position of each of the SNPs is described in Table 3. The positions of the 11 primer pairs are also shown below the respective exons.