Figure 3. .

RAB23 mutations in Carpenter syndrome. A, Sequence chromatograms and confirmatory restriction digests for the five pathogenic mutations identified. Note that patient 3961 is a compound heterozygote for the C85R and L145X mutations. B, top, The exon/intron organization of RAB23, with the coding part of the cDNA (GenBank [accession number NM_183227.1]; Ensembl Genome Browser [reference OTTHUMG00000014918]) in black and the UTRs in white (alternatively spliced 5′ noncoding exons omitted). Plain numbering refers to the first nucleotide of each exon, starting from the initiation codon, and italic numbering indicates the length of introns. Bottom, Functional domains in the 237-aa protein,^13,14,17 color coded, with the location of human mutations causing Carpenter syndrome and those found in open brain mice¹² indicated by red and green dots, respectively. GDP=guanosine diphosphate.