Table 3 of Neidhardt, Mol Vis 2008; 14:1081-1093.

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].

Neidhardt, Mol Vis 2008; 14:1081-1093. http://www.molvis.org/molvis/v14/a129

©2008 Molecular Vision http://www.molvis.org/molvis/

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