RAI1 mutations and polymorphisms identified in four patients with Smith–Magenis syndrome
| Patient ID | Nucleotide change* | Amino acid change | Polymorphisms† |
|---|---|---|---|
| *DNA changes with nucleotide number starting from the ATG in the coding sequence. | |||
| †NCBI SNP database: ‡SNP 8067439; §SNP 3818717; ¶SNP 11078398; **SNP 3803763; ††SNP 11649804; ‡‡G→A change at nucleotide 5334 (a novel polymorphism not reported in the database). | |||
| (CAG)X represents the number of CAG repeats present on each allele. | |||
| SMS153 | 253del(19 bp) | Deletion/frameshift | Pro664Pro‡ (homozygous) |
| Ile1867Ile§ (heterozygous) | |||
| (CAG)13 | |||
| SMS188 | 3801delC | Frameshift | Gly90Ala** (heterozygous) |
| Pro165Thr†† (heterozygous) | |||
| Gln279Gln¶ (heterozygous) | |||
| Pro664Pro (heterozygous) | |||
| Arg1778Arg‡‡ (heterozygous) | |||
| Ile1867Ile (heterozygous) | |||
| (CAG)10/11 | |||
| SMS195 | G5423A | Ser1808Asn | Pro664Pro (homozygous) |
| Ile1867Ile (heterozygous) | |||
| (CAG)10/11 | |||
| SMS175 | A4685G | Gln1562Arg | Gln279Gln (heterozygous) |
| Pro664Pro (heterozygous) | |||
| Ile1867Ile (heterozygous) | |||
| (CAG)9/10 | |||