Table 1.
Summary of RAB23 mutations identified in patients with Carpenter syndrome
| Exons | DNA | Protein | Country/region of origin | References |
|---|---|---|---|---|
| Exon 1 | c.35T>A | p.M12K | Mexico | Jenkins el al., 2011 |
| Exon 1 | c.82C>T | p.R28X | Australia | Jenkins el al., 2011 |
| c.434T>A | p.L145X | |||
| Exon 1 | c.86dupA | p.Y29X | Comoros Islands | Alessandri et al., 2010 |
| Exon 1 | c.140_141insA | p.E48fsX7 | UK | Jenkins el al., 2007 |
| Exon 1 | c.156-3T>G | p.V53fsX13 | Belgium | Jenkins el al., 2011 |
| Exon 2 | c.232delT | p.Y78fsX30 | Brazil | Jenkins el al., 2007 |
| Exon 2 | c.234_236delCTA | p.Y79del | Turkey | Jenkins el al., 2011 |
| Exon 3 | c.253T>C | p.C85R | UK | Jenkins el al., 2007 |
| Exon 3 | c.362_363insG | p.N121fsX4 | Brazil | Jenkins el al., 2011 |
| Exon 4 | c.408_409insT | p.E137X | Brazil | Jenkins el al., 2007 |
| Exon 4 | c.434T>A | p.L145X | Northern Europe | Jenkins el al., 2007 |
| Exon 5 | c.482-1G>A | p.V161fsX3 | United Arab Emirates | this study |
The numeration of exons was restricted to the coding exons only. The numbering for the nucleotide and protein changes are based on cDNA sequence in accordance with the GenBank entries NM_183227.1 and NP_899050.1. ins = Insertion; dup = duplication; del = deletion.