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