Table 3. Polymorphic sequence variations in exons 1 to 15 of RPGR found in X-linked retinitis pigmentosa patients.
|
Patient ID |
Position in RPGR |
Nucleotide substitutions found in RPGR exons 1 to 15 |
SNP ID |
Heterozygosity frequency |
Protein change |
| 24731 | intron 1 | c.29-15G>A | rs6651585 | 0.474 +/- 0.110 | - |
| 24745 | exon 10 | c.1164G>A | rs1801686 | 0.189 +/- 0.242 | p.A388A |
| 24747 | intron 1 | c.29-15G>A | rs6651585 | 0.474 +/- 0.110 | - |
| 24747 | exon 9 | c.1033A>G | - | 0.007** | p.N345D |
| 2249 | exon 11 | c.1367A>G | - | - | p.Q456R |
| 2604 | exon 10 | c.1164G>A | rs1801686 | 0.189 +/- 0.242 | p.A388A |
| 2814 | exon 9 | c.1033A>G | - | 0.007** | p.N345D |
| 2814 | intron 12 | c.1507-101A>T | rs5918520 | - | - |
| 2557 | intron 12 | c.1507-101A>T | rs5918520 | - | - |
| 24520 | intron 12 | c.1507-101A>T | rs5918520 | - | - |
| 25428 | intron 1 | c.29-15G>A | rs6651585 | 0.474 +/- 0.110 | - |
| 25428 | exon 9 | c.1033A>G | - | 0.007** | p.N345D |
| 25428 | intron 12 | c.1507-101A>T | rs5918520 | - | - |
| 24748* | intron 4 | c.310+10T>C | - | - | - |
The sequence alterations are presented in approved nomenclature according to Human Genome Variation Society (NM_001034853 was used as reference sequence for mutation analysis). The asterisk (*) indicates that this sequence variant was not detected in over 300 control alleles. The two asterisks (**) indicate that this value was published by Sharon et al., 2000 [15].