Table 1 of Neidhardt, Mol Vis 2008; 14:1081-1093.


Table 1. Mutations found in RPGR and RP2 in X-linked retinitis pigmentosa families

Patient ID Gene (exon/intron) ORF15 mutation (1) ORF15 protein change (1) Mutation (2) Protein change (2) Mutation first reported by
XRP51 RP2 (exon 1) - - c.13_15del3 p.Phe5del novel mutation
XRP6 RP2 (intron 2) - - c.769-3C>A - novel mutation
XRP21***** RP2 (exon 2) - - c.358C>T p.Arg120X Hardcastle et al., 1999 [51]
XRP26 RP2 (intron 3) - - c.884-1G>C - novel mutation
24748 RP2 (exon 4) - - c.968delAinsTCC p.Lys323fs novel mutation
XRP11 RPGR (intron 2) - - c.154+3del4 - novel mutation
XRP19 RPGR (intron 4) - - c.311-9del13 - novel mutation
24750 RPGR (exon 6) - - c.593G>A p.Gly198Glu novel mutation
XRP16 RPGR (exon 7) - - c.644G>T p.Gly215Val Vervoort et al., 2002 [45]
24739 RPGR (intron 7) - - c.779-5T>G - novel mutation
24746 RPGR (exon 8) - - c.812_813delTT p.Phe271fs novel mutation
XRP32 RPGR (ORF15) g.ORF15+180_181insC ORF15Gly60fs c.1933_1934insC p.Gly645fs novel mutation
XRP70 RPGR (ORF15) g.ORF15+482_485delAGAA ORF15Glu162fs c.2235_2238delAGAA p.Glu747fs novel mutation
2460***** RPGR (ORF15) g.ORF15+483_484delGA ORF15Glu161fs c.2236_2237delGA p.Glu746fs Vervoort et al., 2000 [11]
24520 RPGR (ORF15) g.ORF15+515delA ORF15Glu172fs c.2268delA p.Glu757fs novel mutation
2554 RPGR (ORF15) g.ORF15+517_518delAG ORF15Glu172fs c.2270_2271delAG p.Glu757fs Sharon et al., 2003 [15]
XRP72 RPGR (ORF15) g.ORF15+568_577delAGAGGAAAAA ORF15Glu189fs c.2321_2330delAGAGGAAAAA p.Glu774fs novel mutation
XRP48 RPGR (ORF15) g.ORF15+587_588delAG ORF15Arg195fs c.2340_2341delAG p.Arg780fs Bader et al., 2003 [9]
25085° **** RPGR (ORF15) g.ORF15+652_653delAG ORF15Glu217fs c.2405_2406delAG p.Glu802fs Vervoort et al., 2000 [11]
XRP13 RPGR (ORF15) g.ORF15+673_674delAG ORF15Glu224fs c.2426_2427delAG p.Glu809fs Vervoort et al., 2000 [11]
24751 RPGR (ORF15) g.ORF15+690G>T(stop) ORF15Glu230Ter c.2443G>T p.Glu815X novel mutation
XRP27 RPGR (ORF15) g.ORF15+714A>T (stop) ORF15Lys238Ter c.2467A>T p.Lys823fs Pelletier et al., 2006 [14]
2249 RPGR (ORF15) g.ORF15+747_748insTG ORF15Glu249fs c.2499_2500dupTG p.Glu834fs novel mutation
24745 RPGR (ORF15) g.ORF15+748delA ORF15Glu249fs c.2501delA p.Glu834fs Bader et al., 2003 [9]
2604 RPGR (ORF15) g.ORF15+753delG ORF15Glu251fs c.2506delG p.Glu836fs Pelletier et al., 2006 [14]
10005° RPGR (ORF15) g.ORF15+795delG ORF15Glu265fs c.2548delG p.Glu850fs Prokisch et al., 2007 [52]
24731° RPGR (ORF15) g.ORF15+795delG ORF15Glu265fs c.2548delG p.Glu850fs Prokisch et al., 2007 [52]
2678 RPGR (ORF15) g.ORF15+801_802insG ORF15Glu267fs c.2554dupG p.Glu852fs Bader et al., 2003 [9]
25333 RPGR (ORF15) g.ORF15+833_834delGG ORF15Glu278fs c.2586_2587delGG p.Glu863fs Yokoyama et al., 2001 [53]
2865 RPGR (ORF15) g.ORF15+875_876delGG ORF15Glu292fs c.2628_2629delGG p.Glu877fs Push et al., 2002 [54]
2814 RPGR (ORF15) g.ORF15+1087_1088ins22 ORF15Glu365fs c.[2820_2840dup21; 2840dupA] p.Glu950fs novel mutation
XRP23 RPGR (ORF15) g.ORF15+1254_1257delGGAG ORF15Gly418fs c.3007_3010delGGAG p.Gly1003fs Sharon et al., 2003 [15]
24747** RPGR (ORF15) g.ORF15+1339delA ORF15Glu446fs c.3092delA p.Glu1031fs Bader et al., 2003 [9]
2557°° RPGR (ORF15) g.ORF15+1642delA ORF15Asn547fs c.3395delA p.Asn1132fs novel mutation