Table 1.
FOXO3 sequence variants in POF/PA cases and controls. The incidence of homozygotes in disease cases is listed in parentheses if non-zero. Nucleotide positions correspond to reference cDNA sequence NM_001455 (NCBI); amino acid positions correspond to reference predicted protein NP_001446. SNP database searches were carried out using the Ensembl GeneSNPView search tool that compiles a number of SNP databases; the reference number in parentheses corresponds to the corresponding refSNP ID.
| Exon 1 | Exon 2 | |||||||
|---|---|---|---|---|---|---|---|---|
| Nucleotide position | c.159C>T | c.280C>T | c.281T>C | c.419C>T | c.504C>T | c.1021G>A | c.1156C>T | c.1857C>T |
| Reference sequence | GCC.GCC.GAC | CTC.CTT.GAG | CTC.CTT.GAG | GGG.GCG.GCT | ACC.CGC.GCC | GAT.GCG.CCT | AAC.CTC.ATG | GGG.AGC.TTG |
| Observed variation | GCC.GCT.GAC | CTC.TTT.GAG | CTC.CCT.GAG | GGG.GTG.GCT | ACC.CGT.GCC | GAT.ACG.CCT | AAC.TTC.ATG | GGG.AGT.TTG |
| Coding impact | SILENT | p.Leu94Phe | SILENT | p.Ala140Val | SILENT | p.Ala341Thr | p.Leu386Phe | SILENT |
| Incidence in disease cases | 25% (3/302)* | 1/302 | 1/302 | 9% (4%) | 3/302 | 2/302 (1/302) | 1/302 (1/302) | 4/302 |
| Incidence in controls | 18% | 0% | 0% | 27% | 0% | 0% | 0% | 0% |
| SNP databases | Y (rs11757217) | N | N | N | N | N | N | N |
| Causal? | No | ? | No | No | No | ? | ? | No |