Table 3 of
Rivolta, Mol Vis 2006;
12:1511-1515.Table 3 of
Rivolta, Mol Vis 2006;
12:1511-1515.
Table 3. DNA variants found and their effects
These DNA changes were identified in 613 patients with various forms of retinal degeneration by direct nucleotide sequencing of all exons and proximal intron regions of the peropsin gene (see text for details).
Intron or exon DNA change Effect ------ ------------------------------------ -------------------- 1 IVS1+20 T-A, c.106+20T-A Nonpathogenic 1 Ser18Leu (TCG>TTG), c.53C>T Nonpathogenic 2 Ile41Ile (ATC>ATT), c.123C>T Nonpathogenic 2 Cys98Tyr (TGT>TAT), c.293G>A Possibly pathogenic 3 Asn105Ser (AAT>AGT), c.314A>G Uncertain 3 Ala120Val (GCT>GTT), c.359C>T Uncertain 4 Leu153Leu (CTG>CTA), c.459G>A Nonpathogenic 4 Thr174Thr (ACG>ACA), c.522G>A Nonpathogenic 4 IVS4-42 G>T, c.552>42G-T Nonpathogenic 4 IVS4-93 insT, c.552>93_552>92insT Nonpathogenic 5 IVS5+8 A>G, c.720+8A>G Nonpathogenic 5 His211Arg (CAT-CGT), c.632A>G Nonpathogenic 5 IVS5-5 T-C, c.721-5T>C Nonpathogenic 6 Ile244 (ATC>G>C), c.730_731delATinsG Likely nonpathogenic 6 Met248Val (ATG>GTG), c.742A>G Uncertain 6 Val251fs (GTG>GT>), c.753delG Nonpathogenic 6 Pro274Ser (CCC>TCC), c.820C>T Likely nonpathogenic 7 Asp326Asn (GAT>AAT), c.976G>A Nonpathogenic 7 Arg302Gln (CGG>CAG), c.905G>A Uncertain |