Figure 2.

Genomic organization of the 3′ end of NEB, corresponding to the repeat domains M163–M185, the serine-rich domain with potential RS-phosphorylation motifs, and the SH3-domain of the protein. The exons are shown as boxes numbered from 153a to 187, and the introns are shown as lines. Exons 177b, 177c, 177d, and exon 178b are exons that are not present in the published nebulin sequence (accession no. X83957) but identified in cDNA from one patient with nemaline myopathy. The C-terminal protein structure from the end of the super-repeat region (S21R1–S22R7) to the SH3 domain is shown below the exon/intron organization. The mutation sites are indicated by arrows. The alternatively spliced region of nebulin is shown as gray exons and protein domains.