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. 2002 Sep 5;71(4):863–876. doi: 10.1086/342773

Figure 1.

Figure 1

A, Critical GRACILE region. The locations of the two functionally and positionally promising candidate genes, BCS1L and ABCB6, are shown in relation to the markers demonstrating linkage disequilibrium in GRACILE chromosomes. The marker order and distances are presented as in the NCBI MapViewer, May 2002. B, Genomic structure of the BCS1L gene. The sizes of the exons and introns are indicated in base pairs. The BCS1L mutations reported here (in Finnish and British patients) are indicated above the figure, and the BCS1L mutations described elsewhere (de Lonlay et al. 2001) are marked below. The sizes of the first exon and the first intron (marked with asterisks) vary because of alternative splicing. C, The BCS1L polypeptide of 419 amino acid residues. The numbers indicate the polypeptide regions encoded by distinct exons of the BCS1L gene. Residues 9–32 correspond to the transmembrane region of the yeast BCS1p protein (Fölsch et al. 1996). Residues 224–344 represent the conserved AAA domain, according to CD-Search (Marchler-Bauer et al. 2002) at the NCBI BLAST service.