Table 2.
Variants detected in FGF8 by HRM and bi-directional sequencing. DNA mutation numbering is based on the cDNA sequence. A of ATG translation initiation codon is +1 and the initiation codon is codon 1 based on NM_033163.1 (for a review, see Krejci et al. [2009])
| Exon | Nucleotide and amino acid variants | Location | Number of HPE patients | Number of controls |
|---|---|---|---|---|
| 1 | c.l-35C>T [5′UTR-35C>T, rs2735432] | 5′UTR | 8 | 3 |
| 1 | c.l-6G>T [5′UTR-6G>T] | 5′UTR | 1 | 0 |
| 3 | c.70-127G>C [IVS2-127G>C] | intronic | 1 | 0 |
| 4 | c.232C>T [p.R78C] | missense | 0 | 1 |
| 5 | c.444+19G>A [IVS5+19G>A, rs3218234] | intronic | 12 | 4 |
| 5 | c.444+30C>A [IVS5+30C>A] | intronic | 1 | 0 |
| 5 | c.444+36C>A [IVS5+36C>A] | intronic | 1 | 0 |
| 6 | c.678G>T [p.P226P] | synonymous substitution | 1 | 0 |
| 6 | c.686C>T [p.T229M] | missense | 2 | 0 |