Table 2 of Neidhardt, Mol Vis 2008; 14:1081-1093.

Table 2. Polymorphic sequence variations in exon ORF15 of RPGR found in X-linked retinitis pigmentosa patients

Patient ID Deletions or duplications found in exon ORF15 (1) Deletions or duplications found in exon ORF15 (2) Nucleotide substitutions found in exon ORF15 (1) Nucleotide substitutions found in exon ORF15 (2) Protein change resulting from nucleotide substitutions (1)/(2)
24731 g.ORF15+1060_1080dup21 c.2813_2833dup21 g.ORF15+1643C>T c.3396C>T p.N547N / p.N1132N
24731 - - g.ORF15+1677G>A c.3430G>A p.V559I / p.V1144I
24747 - - g.ORF15+1643C>T c.3396C>T p.N547N / p.N1132N
24747 - - g.ORF15+1677G>A c.3430G>A p.V559I / p.V1144I
2678 - - g.ORF15+1813A>C c.3566A>C 3'UTR
2814 - - g.ORF15+1643C>T c.3396C>T p.N547N / p.N1132N
2814 - - g.ORF15+1677G>A c.3430G>A p.V559I / p.V1144I
2814 - - g.ORF15+1813A>C c.3566A>C 3'UTR
2865 g.ORF15+1307_1318delAGTGGAAGGGGA c.3060_3071del12 - - -
3044 g.ORF15+914_916delGGA c.2667_2669del3 g.ORF15+588G>A c.2341G>A p.A196T / p.A781T
25085 g.ORF15+1307_1318delAGTGGAAGGGGA c.3060_3071del12 - - -

The sequence alterations are either presented in approved nomenclature according to Human Genome Variation Society (2) or as recommended by Bader et al., 2003 [9] and Sharon et al., 2003 [15] (1) (BC043348 and NM_001034853 were used as reference sequence for, respectively, RP2 and RPGR mutation analysis).

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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