The Human Retinitis Pigmentosa GTPase Regulator Gene Variant Database
Summary of RPGR mutations and polymorphisms
Table 1 Summary of all reported RPGR mutation in exons
Exons 2-14
Nucleotide change
c.33delG (92delG)
c.101delA (160delA)
c.122C>G (181C>G)
c.127G>A (186G>A)
c.128G>A (187G>A)
c.154G>A (213G>A)
Effect
p.G12fs
p.N34fs
p.S41X
p.G43R
p.G43E
splice defect
c.154G>T (213G>T)
p.G52X
2
c.179G>T (238G>T)
p.G60V
3
c.194G>T (253G>T)
c.194delG (253delG)
c.237_238delAT (296_297delAT)
c.274_277dup4 (333_336dup4)
c.294C>A (353C>A)
p.G65V
p.W64fs
p.T79fs
p.A93fs
p.H98Q
3
3
3
4
4
c.295insCA (354insCA)
c.296C>A (355C>A)
c.323_328del6 (382_387del6)
c.350G>A (409G>A)
c.356delT (415delT)
c.371delC (430delC)
c.379A>G (438A>G)
Exon
2
2
2
2
2
2
p.T99fs
p.T99N
p.V108_Y109del
p.G117E
p.L119fs
p.T124fs
p.R127G
4
4
5
5
5
5
5
c.390T>G (449T>G)
c.408delT (467delT)
c.415G>T (474G>T)
p.F130C
p.F135fs
p.E139X
5
5
5
c.455C>T (514C>T)
c.482delT (541delT)
p.S152L
p.L161fs
5
6
c.482_483delTT (541_542delTT)
c.485_486delTT (544_545delTT)
c.486delT (545delT)
c.492G>A (551G>A)
p.L161fs
p.F162fs
p.F162fs
p.W164X
6
6
6
6
c.494G>T (553G>T)
c.517G>C (576G>C)
p.G165V
p.G173R
6
6
c.581G>A (640G>A)
p.W194X
6
c.583A>G (642A>G)
c.605C>A (664C>A)
c.618_621del4 (677_680del4)
c.629_639del11 (688_698del11)
c.644G>T (703G>T)
p.I195V
p.S202X
splice defect
p.E210fs
p.G215V
6
6
6
7
7
c.697_724del28 (756_783del28)
c.703C>T (762C>T)
c.706C>T (765C>T)
c.730A>T (789A>T)
c.747delC (806delC)
c.748T>C (807T>C)
p.R233fs
p..P235S
p.Q236X
p.K244X
p. A249fs
p.C250R
7
7
7
7
7
7
c.749G>A (808G>A)
p.C250Y
7
Syndrome
XLRP
XLRP
XLRP
XLRP
XLRP
XLRP
Reference
Bader et al. 2003
Guevara-Fujita et al. 2001
Pelletier et al. 2007
Sharon et al. 2000
Sharon et al. 2000
Demirci et al. 2002;
Pelletier et al. 2007
XLRP
Meindl et al. 1996; Jacobson et
al. 1997; Bader et al. 2003
XLRP
Buraczynska et al. 1997;
Fishman et al. 1998b; Sharon et
al. 2000
XLRP
Pelletier et al. 2007
XLRP
Shu et al. 2007
XLRP
Miano et al. 1998
XLRP
Chung et al. 2003
XLRP
Meindl et al.1996;
Vervoort et al. 2000
XLRP
Weleber et al. 1997
XLRP
Miano et al. 1999
XLRP
Pelletier et al. 2007
XLRP
Shu et al. 2007
XLRP
Sharon et al. 2000
XLRP
Buraczynska et al. 1997
XLRP
Sharon et al. 2000;
Breuer et al. 2002
XLRP
Roepman et al. 1996b
XLRP
Shu et al. 2007
XLRP
Vervoort et al. 2000;
Breuer et al. 2002
XLRP
Bader et al. 2003
XLRP
Miano et al. 1999
Garcia-Hoyos et al. 2006
XLRP
Breuer et al. 2002
XLRP
Sharon et al. 2000
XLRP
Miano et al. 1998
XLRP
Buraczynska et al. 1997;
Breuer et al. 2002
XLRP
Shu et al. 2007
XLRP, ROM, RUTI
Iannaccone et al. 2003
hearing loss
Breuer et al. 2002
XLRP
Meindl et al. 1996;
Vervoort et al. 2000
XLRP
Pelletier et al. 2007
XLRP
Sharon et al. 2000
XLRP
Bader et al. 2003
XLRP
Breuer et al. 2002
XLRP
Meindl et al. 1996;
Bader et al. 2003
XLRP
Zhao et al. 2001
XLRP
Roepman et al. 1996b
XLRP
Buraczynska et al. 1997
XLRP
Guevara-Fujita et al. 2001
XLRP
Sharon et al. 2003
XLRP
Meindl et al. 1996;
Vervoort et al. 2000
XLRP
Breuer et al. 2002
c.749_750delGT (808_809delGT)
c.752_753delTG (812_813delTG)
c.764C>T
c.771_773delTCT (830_832delTCT)
c.786_787delTG (845_846delTG)
p.C250fs
p.G252fs
p.T255I
p.L258del
p.A262fs
7
XLRP
Zito et al. 1999
7
XLRP
Pelletier et al. 2007
7
XLRP
Prokisch et al. 2007
7
XLRP
Breuer et al. 2002
8 XLRP, impaired hearing Zito I ,et al. 2003
sinorespiratory
c.799G>A (858G>A)
p.G267R
8
XLRP
Breuer et al. 2002
c.800G>A (859G>A)
p.G267E
8
XLRP
Pelletier et al. 2007
c.814G>A (873G>A)
p.G272S
8
XLRP
Pelletier et al. 2007
c.817C>T (876C>T)
p.Q273X
8
XLRP
Shu et al. 2007
c.823G>A (882G>A)
p.G275S
8
XLRP
Roepman et al. 1996;
Sharon et al. 2005;
Banin et al. 2007
Pelletier et al. 2007;
Prokisch et al. 2007
c.837delT (896delT)
p.F279fs
8
XLRP
Sharon et al. 2000
c.838_842del5 (897_901del5)
p.L280fs
8
XLRP
Sharon et al. 2003
c.865A>G(924A>G)
p.I289V
8
XLRP
Miano et al. 1999;
Breuer et al. 2002
c.869delA (928delA)
p.E290fs
8
XLRP
Buraczynska et al. 1997;
Sharon et al. 2000
c.886_900del15 (945_959del15)
p.T296-I300del5 8
XLRP
Meindl et al. 1996;
Bader et al. 2003
c.891_892delAA (950_951delAA)
p.I297fs
8
XLRP
Zito et al. 2000a
c.904T>C (963T>C)
p.C302R
8
XLRP
Zito et al. 2000a
c.905G>A (964G>A)
p.C302Y
8
XLRP
Sharon et al. 2000
c.934G>A (993G>A)
p.D312N
8
XLRP
Sharon et al. 2003
c.934G>T (993G>T)
p.D312Y
8
XLRP
Sharon et al. 2003
c.958G>A (1017G>A)
p.G320R
9
XLRP
Sharon et al. 2003
c.980T>G (1039T>G)
p.L327X
9
XLRP
Sharon et al. 2003
c.994G>T (1053G>T)
p.E332X
9
XLRP
Liu et al. 2000
c.1088_1089insT (1147_1148insT)
p.V363fs
10
XLRP
Guevara-Fujita et al. 2001
c.1092_1093insT (1151_1152insT)
p.A365fs
10
XLRP
Sharon et al 2000
c.1100delC (1159delC)
p.P367fs
10
XLRP
Sharon et al. 2000
c.1117A>T (1176A>T)
p.K373X
10
XLRP
Garica-Hoyos et al.2006
c.1120G>T (1179G>T)
p.E374X
10
XLRP
Buraczynska et al. 1997
c.1135G>T (1194G>T)
p.E379X
10
XLRP
Shu et al. 2007
c.1175delC (1234delC)
p.P392fs
10
XLRP
Pelletier et al. 2007
c.1179T>G
p.Y393X
10
XLRP
Prokisch et al. 2007
c.1216_1217delCT (1275_1276delCT) p.L406fs
10
XLRP
Bader et al. 2003;
Pelletier et al. 2007
c.1234C>T (1293C>T)
p.R412X
10
XLRP
Breuer et al. 2002
c.1238_1239insAC (1297_1298insAG) p.R413fs
10
XLRP
Zito et al. 1999
c.1242_1243delGA (1301_1302delGA) p.E414fs
10
XLRP
Koenekoop et al. 2003
c.1261_1279del19 (1320_1338del19) p.S421fs
11
XLRP
Buraczynska et al. 1997
c.1307G>A (1366G>A)
p.G436D
11
XLRP
Guevard-Fujita et al.2001;
Sharon et al. 2000; Breuer et al.
2002
c.1345C>T (1404C>T)
p.R449X
11
XLRP
Breuer et al. 2002; Demirci et
al. 2003
c.1372_1373delAG (1431_1432delAG) p.S458fs
11
XLRP
Breuer et al. 2002
c.1376_1377delTC (1435_1436delTC) p.V459fs
11
XLRP
Zito et al. 1999; Sharon et al.
2000
c.1399C>T
p.Q467X
11
XLRP
Prokisch et al. 2007
c.1402_1405del4 (1461_1464del4)
p.P468fs
11
XLRP
Roepman et al. 1996
Prokisch et al. 2007
c.1477delC (1536delC)
p.L493fs
12
XLRP
Liu et al. 2000; Prokisch et al. 2007
c.1512_1513delCA (1571_1572delCA) p.H504fs
13
XLRP
Buraczynska et al. 1997;
Fishman et al. 1998a
c.1582_1585del4 (1641_1644del4)
p.T528fs
14
XLRP
Buraczynska et al.1997;
Sharon et al. 2000
c.1628_1629insAACGATGA
p.D543fs
14
XLRP
Prokisch et al. 2007
c.1685_1686delAT (1744_1745delAT) p.H562fs
14
XLRP
Breuer et al. 2002;
Pelletier et al. 2007
c.1747G>T (1806G>T)
p.E583X
14
XLRP
Sharon et al. 2003
c.1765G>T
p.E589X
ORF15 XLRP
Shu et al. 2007
(g.ORF15+12G>T)
(p.ORF15+E4X)
c.1835_1836insA
(g.ORF15+82_83insA)
c.1869_1870delAG
(g.ORF15+116_117delAG)
c.1872_1873delGA
(g.ORF15+119_120delGA)
p.N612fs
(p.ORF15+N27fs)
p.T623fs
(p.ORF15+T38fs)
p.E624fs
(p.ORF15+E39fs)
c.1926_1927insA
p.S643fs
(g.ORF15+173_174insA)
(p.ORF15+S58fs)
c.1928C>G
p.S643X
(g.ORF15+175C>G)
(p.ORF15+S58X)
c.1938_1939insAGAGG
p.A646fs
(g.ORF15+185_186insAGAGG) (p.ORF15+A61fs)
c.1952_1953insT
p.P651fs
(g.ORf15+199_200insT)
(p.ORF15+P66fs)
c.2002delC
p.H668fs
(g.ORF15+249delC)
(p.ORF15+H83fs)
c.2007G>A
p.W669X
(g.ORF15+254G>A)
(p.ORF15+W84X)
c.2049_2128dup80
p.Q710fs
(g.ORF15+296_375dup80)
(p.ORF15+Q125fs)
c.2080A>T
p.K694X
(g.ORF15+327A>T)
(p.ORF15+K109X)
c.2105_2213dup109
p.G738fs
(g.ORF15+352_460dup109)
(p.ORF15+G153fs)
c.2109_2110insGAAG
p.K704fs
(g.ORF15+356_357insGAAG) (p.ORF15+K119fs)
c.2122G>T
p.E708X
(g.ORF15+369G>T)
(p.ORF15+E123X)
c.2144_2216dup73
p.E739fs
(g.ORF15+391_463dup73)
(p.ORF15+E154fs)
c.2146G>T
p.E716X
(g.ORF15+393G>T)
(p.ORF15+E131X)
c.2148_2149ins356
p.E716_Q717ins22aa
c.2153delG
p.G718fs
c.2155_2156insC
p.H719fs
(g.ORF15+402_403insC)
(p.ORF15+H134fs)
c.2167delA
p.E721fs
(g.ORF15+414delA)
(p.ORF15+E136fs)
c.2171delA
p.N724fs
c.2173C>T
p.Q725X
(g.ORF15+420C>T)
(p.ORF15+Q140X)
c.2176G>T
p.E726X
(g.ORF15+423G>T)
(p.ORF15+E141X)
c.2185delG
p.E729fs
(g.ORF15+432delG)
(p.ORF15+E144fs)
c.2187delG
p.E729fs
(g.ORF15+434delG)
(p.ORF15+E144fs)
c.2189delG
p.G730fs
(g.ORF15+436delG)
(p.ORF15+G145fs)
c.2218G>T
p.E740X
(g.ORF15+465G>T)
(p.ORF15+E155X)
c.2233_2234delAG
p.R745fs
(g.ORF15+480_481delAG)
(p.ORF15+R160fs)
c.2234_2235delGA
p.R745fs
(g.ORF15+481_482delGA)
(p.ORF15+R160fs)
c.2234_2237delGAGG
p.R745fs
(g.ORF15+481_484delGAGA) (p.ORF15+R160fs)
c.2235_2236delAG
p.R745fs
(g.ORF15+482_483delAG)
(p.ORF15+R160fs)
c.2236_2237delGA
p.E746fs
(g.ORF15+483_484delGA)
(p.ORF15+E161fs)
c.2241_2242delGG
(g.ORF15+488_489delGG)
p.E748fs
(p.ORF15+E163fs)
ORF15
XLRP
Sharon et al. 2000
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
Pusch et al. 2002
ORF15 XLRP/XLCRD Vervoort et al 200;
Mears et al. 2000
ORF15 XLRP
Shu et al. 2007
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Itabashi et al. 2004
ORF15
XLRP
Itabash et al. 2004
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
Shu et al. 2007
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Vervoort et al. 2000
ORF15
XLRP
Breuer et al. 2002
ORF15
ORF15
ORF15
XLRP
XLRP
XLRP
Prokisch et al. 2007
Roux et al. Unpub lished
Bader et al. 2003
ORF15
XLRP
ORF15
ORF15
XLRP
XLRP
Pusch et al. 2002;
Bader et al. 2003
Prokisch et al. 2007
Pusch et al. 2003
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Breuer et al. 2002
ORF15
XLDRP
ORF15
XLRP
Pelletier et al. 2007
ORF15
XLDRP
ORF15
XLRP
Rozet et al. 2002
Pelletier et al. 2007
Breuer et al. 2002
ORF15
XLDRP
ORF15
XLRP
ORF15
XLRP
ORF15
XLRP,
XLDRP
ORF15
XLRP
Rozet et al. 2002
Rozet et al. 2002
Breuer et al. 2002
Garcia-Hoyos et al. 2006
Jin et al. 2005
Vervoort et al. 2000;
Breuer et al. 2002; Rozet
et al. 2002; Bader et al. 2003;
Chung et al. 2003; Li et al. 2005;
Jin et al. 2006; Pelletier et al. 2007
Pelletier et al. 2007
c.2245G>T
(g.ORF15+492G>T)
c.2252_2255delAGGA
(g.ORF15+499_502delAGGA)
c.2256_2259delGGGA
(g.ORF15+503_506delGGGA)
c.2257_2260delGGAG
(g.ORF15+504_507delGGAG)
c.2260G>T
(g.ORF15+507G>T)
p.E749X
(p.ORF15+ E164X)
p.K751fs
(p.ORF15+K166fs)
p.E752fs
(p.ORF15+E167fs)
p.G753fs
(p.ORF15+G168fs)
p.E754X
(p.ORF15+ E169X)
ORF15
XLRP
Vervoort et al. 2000
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
Breuer et al. 2002
c.2270_2271delAG
(g.ORF15+517_518delAG)
p.E757fs
(p.ORF15+E172fs)
ORF15
c.2293G>T
(g.ORF15+540G>T)
c.2305G>A
(g.ORF15+552G>A)
c.2311delG
(g.ORF15+558delG)
c.2319_2320delAG
(g.ORF15+566_567delAG)
c.2323_2324delAG
(g.ORF15+570_571delAG)
c.2340delA
(g.ORF15+587delA)
c.2340_2341delAG
(g.ORF15+587_588delAG)
c.2357_2358delAA
(g.ORF15+604_605delAA)
c.2384delA
(g.ORF15+631delA)
c.2398delG
(g.ORF15+645delG)
c.2400_2401delAA
(g.ORF15+647_648delAA)
c.2403_2404delAG
(g.ORF15+650_651delAG)
c.2403_2406delAGAG
(g.ORF15+650_653delAGAG)
c.2404_2405delGA
(g.ORF15+651_652delGA)
c.2405_2406delAG
(g.ORF15+652_653delAG)
p.E765X
(p.ORF15+ E180X)
p.E769X
(p.ORF15+E184X)
p.E771fs
(p.ORF15+E186fs)
p.G773fs
(p.ORF15+G188fs)
p.R775fs
(p.ORF15+R190fs)
p.R780fs
(p.ORF15+R195fs)
p.R780fs
(p.ORF15+R195fs)
p.K786fs
(p.ORF15+K201fs)
p.E795fs
(p.ORF15+E210fs)
p.E800fs
(p.ORF15+E215fs)
p.E800fs
(p.ORF15+E215fs)
p.T801fs
(p.ORF15+T216fs)
p.T801fs
(p.ORF15+T216fs)
p.E802fs
(p.ORF15+E217fs)
p.E802fs
(p.ORF15E217fs)
ORF15
XLRP
ORF15
XLRP
ORF15
XLRP
Pelletier et al. 2007
Kaplan J et al. 2007
Sullivan et al. 2006
ORF15
XLRP
Garica-Hoyos. 2006
ORF15
XLRP
ORF15
XLRP
Breuer et al. 2002
Prokisch et al. 2007
Sharon et al. 200 3
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
ORF15
XLRP
ORF15
XLRP
ORF15
ORF15
XLRP,
XLDRP
XLRP
ORF15
XLRP
ORF15
XLRP
c.2412_2413delAG
(g.ORF15+659_660delAG)
c.2423_2424delAA
(g.ORF15+670_671delAA)
c.2425_2426delGA
(g.ORF15+672_673delGA)
c.2426_2427delAG
(g.ORF15+673_674delAG)
p.R804fs
(p.ORF15+R219fs)
p.K808fs
(p.ORF15+K223fs)
p.E809fs
(p.ORF15+E224fs)
p.E809fs
(p.ORF15+E224fs)
ORF15
XLRP
XLRP
Sharon et al. 2003
Pelletier et al. 2007
Prokisch et al. 2007
Sharon et al. 2003
Breuer et al. 2002; Pusch et al.
2002; Aguirre et al. 2002
Bader et al. 2003
Vervoort et al. 2000
Breuer et al. 2002;
Rozet et al. 2002
Sharon et al. 2003
Pelletier et al. 2007
Nao-I et al. 2003
Garcia-Hoyos et al. 2006
Vervoort et al. 2000;
Breuer et al. 2002; Rozet
et. 2002; Andreasson et al.
2003; Bader et al. 2003;
Chakarova et al. 2006;
Jin et al. 2006; Pelletier et al. 2007
Sharon et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Jin et al. 2005
ORF15
XLRP
Vervoort et al. 2000;
Breuer et. al. 2002;
Andreasson et al. 2003;
Jin et al. 2006
Sharon et al. 2003
c.2437G>T
p.E813X
ORF15
(g.ORF15+684G>T)
(p.ORF15+ E228X)
c.2442_2445delAGAG
p.V814fs
ORF15
(g.ORF15+689_692delAGAG) (p.ORF15+V229fs)
XLRP
c.2464_2468delGGGAA
p.G822fs
(g.ORF15+711_715delGGGAA) (p.ORF15+G237fs)
c.2467A>T
p.K823X
(g.ORF15+714A>T)
(p.ORF15+K238X)
ORF15
XLRP
Vervoort et al. 2000;
Breuer et al. 2002;
Bader et al. 2003
Pelletier et al. 2007
ORF15
XLRP
Pelletier et al. 200 7
XLRP
c.2472_2485del14
(g.ORF15+719_732del14)
c.2473_2474delGA
(g.ORF15+720_721delGA)
c.2473_2486del14
(g.ORF15+720_733del14)
c.2476_2477delAG
(g.ORF15+723_724delAG)
c.2480_2520dup41
(g.ORF15+727_767dup41)
p.G824fs
(p.ORF15+G239fs)
p.E825fs
(p.ORF15+E240fs)
p.E825fs
(p.ORF15+E240fs)
p.R826fs
(p.ORF15+R241fs)
p.E841fs
(p.ORF15+E256fs)
c.2491G>T
(g.ORF15+738G>T)
c.2493_2494delGG
(g.ORF15+740_741delGG)
c.2494G>T
(g.ORF15+741G>T)
c.2495_2516del22
(g.ORF15+742_763del22)
c.2499delT
(g.ORF15+746delT)
c.2501delA
(g.ORF15+748delA)
c.2505_2506delGG
(g.ORF15+752_753delGG)
c.2506delG
(g.ORF15+753delG)
p.E831X
(p.ORF15+E246X)
p.E831fs
(p.ORF15+E246fs)
p.E832X
(p.ORF15+E247X)
p.E832fs
(p.ORF15+E247fs)
p.G833fs
(p.ORF15+G248fs)
p.E834fs
(p.ORF15+E249fs)
p.G835fs
(p.ORF15+G250fs)
p.E836fs
(p.ORF15+E251fs)
c.2506dupG
(g.ORF15+753dupG)
c.2506_2507insG
(g.ORF15+753_754insG)
c.2516_2520delAAGGG
(g.ORF15+763_767delAAGGG)
c.2517_2518delAG
(g.ORF15+764_765delAG)
p.E836fs
ORF15
(p.ORF15+E251fs)
p.E836fs
ORF15
(p.ORF15+E251fs)
p.E839fs
ORF15
(p.ORF15+E254fs)
p.E839fs
ORF15
(p.ORF15+E254fs)
c.2522delA
p.E841fs
(g.ORF15+769delA)
(p.ORF15+E256fs)
c.2529delA
p.E843fs
(g.ORF15+776delA)
(p.ORF15+E258fs)
c.2536G>T
p.E846X
(g.ORF15+783G>T)
(p.ORF15+E261X)
c.2543delA
p.E848fs
(g.ORF15+790delA)
(p.ORF15+E263fs)
c.2548delG
p.E850fs
c.2548_2667del120insAGGGAGAA p.E850fs
c.2554_2555insG
p.E852fs
(g.ORF15+801_802insG)
(p.ORF15+E267fs)
c.2557G>T
p.E853X
(g.ORF15+804G>T)
(p.ORF15+E268X)
c.2571_2572delAG
p.K857fs
(g.ORF15+818_819delAG)
(p.ORF15+K272fs)
c.2586_2587delGG
p.G862fs
(g.ORF15+833_834delGG)
(p.ORF15+G277fs)
c.2590G>T
p.E864X
(g.ORF15+837G>T)
(p.ORF15+E279X)
c.26012602delGG
p.G867fs
(g.ORF15+848_849delGG)
(p.ORF15+G282fs)
c.2608_2611delGAAG
p.E870fs
(g.ORF15+855_858delGAAG) (p.ORF15+285fs)
c.2613_2614delGG
p.G871fs
(g.ORF15+860_861delGG)
(p.ORF15+G286fs)
c.2614_2615insGG
p.E872fs
(g.ORF15+861_862insGG)
(p.ORF15+E287fs)
c.2625_2626insA
p. G876fs
(g.ORF15+872_873insA)
(p.ORF15+G291fs)
ORF15
XLRP
Kaplan et al. 2007
ORF15
XLRP
Garica-Hoyos et al. 2006
ORF15
XLRP
Pelletier et al. 2007
ORF15
XLRP
Pusch et al. 2002;
Bader et al. 2003
Pusch et al. 2002
ORF15
XLRP
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
ORF15
XLRP
Pelletier et al. 2 007
Kaplan et al. 2007
Bader et al. 2003
ORF15
XLRP
Sharon et al. 200 3
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
XLRP
Pelletier et al. 2 007;
Prokisch et al. 2007;
Shu et al. 2007
Pelletier et al. 2007
XLRP
Yokoyama et al. 2001
XLRP
Sharon et al. 2003
XLRP
ORF15
XLRP
Sharon et al. 2003;
Gire et al. 2003;
Sullivan et al. 2006
Vervoort et al. 2000
ORF15
XLRP
Shu et al. 2007
ORF15
XLRP
Shu et al. 2007
ORF15
XLRP
Pusch et al. 2002
ORF15
ORF15
ORF15
XLRP
XLRP
XLRP
Prokisch et al. 2007
Prokisch et al. 2007
Bader et al. 2003
ORF15
XLRP
ORF15
XLRP
Vervoort et al. 20 00
Pelletier et al. 2007
Sharon et al. 2003
ORF15
XLRP
ORF15
XLRP
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
Garica-Hoyos et al. 2006
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
ORF15
XLRP
Yokoyama et al. 2001;
Naoi et al. 2003
Vervoort et al. 2000
Yokoyama et al. 2001;
Naoi et al. 2003
Pusch et al. 2002
c.2628_2629delGG
(g.ORF15+875_876delGG)
c.2629G>T
(g.ORF15+876G>T)
c.2635dupG
(g.ORF15+882dupG)
c.2650G>T
(g.ORF15+897G>T)
c.2655_2656delGG
(g.ORF15+902_903delGG)
c.2659_2662delGGAG
(g.ORF15+906_909delGGAG)
c.2665G>T
(g.ORF15+912G>T)
p.G876fs
(p.ORF15+G291fs)
p.E877X
(p.ORF15+E292X)
p.E879fs
(p.ORF15+E294fs)
p.E884X
(p.ORF15+E299X)
p.G885fs
(p.ORF15+G300fs)
p.G887fs
(p.ORF15+G302fs)
p.E889X
(p.ORF15+E304X)
c.2679_2680delGG
p.G893fs
(g.ORF15+926_927delGG)
(p.ORF15+G308fs)
c.2683G>T
p.G895X
(g.ORF15+930G>T)
(p.ORF15+G310X)
c.2707G>T
p.E903X
(g.ORF15+954G>T)
(p.ORF15+E318X)
c.2714_2715delAA
p.E905fs
(g.ORF15+961_962delAA)
(p.ORF15+E320fs)
c.2715_2716insCCTC
p.E906fs
(g.ORF15+962_963insCCTC) (p.ORF15E321fs)
c.2716G>T
p.E906X
(g.ORF15+963G>T)
(p.ORF15+E321X)
c.2730_2731delGG
p.G910fs
(g.ORF15+977_978delGG)
(p.ORF15+G325fs)
c.2760_2761delAG
p.F920fs
(g.ORF15+1007_1008delAG) (p.ORF15+F335fs)
c.2763_2764delGG
p.G921fs
(g.ORF15+1010_1011delGG) (p.ORF15+G336fs)
c.2782G>T
p.G928X
(g.ORF15+1029G>T)
(p.ORF15+G343X)
c.2790_2791delGG
p.G930fs
(g.ORF15+1037_1038delGG)
(p.ORF15+G345fs)
c.2792delA
p.E931fs
(g.ORF15+1039delA)
(p.ORF15+E346fs)
c.2800G>T
p.E934X
(g.ORf15+1047G>T)
(p.ORF15+E349X)
c.2812G>T
p.E938X
(g.ORF15+1059G>T)
(p.ORF15+E353X)
c.2836_2840del5
p.G946fs
(g.ORF15+1083_1087del5
(p.ORF15+G361fs)
c.2838_2839delGG
p.E947fs
(g.ORF15+1085_1086delGG) (p.ORF15+E362fs)
c.2840delA
p.E947fs
(g.ORF15+1087delA)
(p.ORF15+E362fs)
c.2840_2844del5
p.E947fs
(g.ORF15+1087_1091del5)
(p.ORF15+E362fs)
c.2845delG
p.E949fs
(g.ORF15+1092delG)
(p.ORF15E364fs)
c.2848G>T
p.E950X
(g.ORF15+1095G>T)
(p.ORF15+E365X)
c.2851_2854delGAGG
p.E951fs
(g.ORF15+1098_1101delGAGG) (p.ORF15+E366fs)
c.2862dupA
p.W955fs
(g.ORF15+1109dupA)
(p.ORF15+W370fs)
c.2866delG
p.E956fs
(g.ORF15+1113delG)
(p.ORF15+E371fs)
c.2867delA
p.E956fs
(g.ORF15+1114delA)
(p.ORF15+E371fs)
c.2872G>T
p.E958X
(g.ORF15+1119G>T)
(p.ORF15+E373X)
c.2892_2893delGG
p.G964fs
(g.ORF15+1139_1140delGG)
(p.ORF15+G379fs)
ORF15
XLRP
Pusch et al. 2002
ORF15
XLRP
Shu et al. 2007
ORF15
XLRP
Pelletier et al. 2007
ORF15
XLRP
ORF15
XLRP
Vervo ort et al. 2000;
Sharon et al. 2003
Sharon et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Demirci et al. 200 6
ORF15
XLRP
Sharon et al. 2003
ORF15
XLDRP
ORF15
XLRP
Rozet et al. 2002
Pelletier et al. 2007
Sharon et al. 20003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Vervoort et al. 2000
ORF15
XLRP
Shu et al. 2007
ORF15
XLRP
Vervoort et al. 2000
ORF15
XLRP
ORF15
XLRP
Pusch et al. 2002;
Bader et al. 2003
Shu et al. 2007
ORF15
XLRP
Pelletier et al. 2 007
ORF15
XLRP
Sharon et al. 2003
ORF15
XLDRP
ORF15
XLDRP
ORF15
XLRP
ORF15
XLRP
ORF15
XLRP
Rozet et al. 2002
Pelletier et al. 2007
Rozet et al. 2002
Pelletier et al. 2007
Pelletier et al. 2007
Pelletier et al. 2007
ORF15
XLRP
Shu et al. 200 7
ORF15
XLCRD
Ebenezer et al. 2005
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Shu et al. 200 7
ORF15
XLRP
Sharon et al. 2 003
ORF15
XLRP
Pelletier et a l. 2007
ORF15
XLRP
Shu et al. 2007
ORF15
XLRP
Shu et al. 2007
c.2893delG
(g.ORF15+1140delG)
c.2894delA
(g.ORF15+1141delA)
c.2899delG
(g.ORF15+1146delG)
c.2908_2931dup24
(g.ORF15+1155_1178dup24)
c.2916_2917delGG
(g.ORF15+1163_1164delGG)
c.2917G>T
(g.ORF15+1164G>T)
c.2919delA
(g.ORF15+1166delA)
c.2924_2943dup20
(g.ORF15+1171_1190dup20)
p.E965fs
(p.ORF15+E380fs)
p.E965fs
(p.ORF15+E380fs)
p.E967fs
(p.ORF15+E382fs)
p.E978fs
(p.ORF15+E393fs)
p.G972fs
(p.ORF15+G387fs)
p.E973X
(p.ORF15+E388X)
p.E973fs
(p.ORF15+E388fs)
p.E982fs
(p.ORF15+E397fs)
c.2929G>T
(g.ORf15+1176G>T)
c.2935_2936delGG
(g.ORF15+1182_1183delGG)
c.2944delG
(g.ORF15+1191delG)
c.2952_2978del27insT
(g.ORF15+1199_1225del27insT)
c.2964_2965delGG
(g.ORF15+1211_1212delGG)
c.2984_2985delGG
(g.ORf15+1231_1232delGG)
c.2985_2986delGG
(g.ORF15+1232_1233delGG)
c.2992_2996del5
(g.ORf15+1239_1243del5
c.2995_2996delGG
(g.ORF15+1242_1243delGG)
c.2997_2998delGG
(g.ORF15+1244_1245delGG)
c.3007_3008delGG
(g.ORF15+1254_1255delGG)
c.3007_3010delGGAG
(g.ORf15+1254_1257delGGAG)
c.3011_3012delAG
(g.ORF15+1258_1259delAG)
c.3027_3028delGG
p.G977X
(p.ORF15+G392X)
p.E979fs
(p.ORF15+E394fs)
p.E982fs
(p.ORF15+E397fs)
p.E984fs
(p.ORF15+E399fs)
p.G988fs
(p.ORF15+G403fs)
p.G995fs
(p.ORF15+G410fs)
p.G995fs
(p.G410fs)
p.E998fs
(p.ORF15+E413fs)
p.G999fs
(p.ORF15+G414fs)
p.G999fs
(p.ORF15+G414fs)
p.G1003fs
(p.ORF15+G418fs)
p.G1003fs
(p.ORF15+G418fs)
p.E1004fs
(p.ORF15+E419fs)
p.G1009fs
c.3050_3051delAG
(g.ORF15+1297_1298delAG)
c.3058delG
(g.ORF15+1305delG)
c.3090_3091delAG
(g.ORF15+1337_1338delAG)
c.3092delA
p.E1017fs
(p.ORF15+E432fs)
p.E1020fs
(p.ORF15+E435fs)
p.G1030fs
(p.ORF15+G445fs)
p.E1031fs
(g.ORF15+1339delA)
c.3092_3093delAG
(g.ORF15+1339_1340delAG)
c.3096_3097delGG
(g.ORF15+1343_1344delGG)
c.3097delG
(g.ORF15+1344delG)
c.3175_3176delAG
(g.ORF15+1422_1423delAG)
c.3211G>T
(g.ORF15+1458G>T)
c.3207_3208delGG
(g.ORF15+1454_1455delGG)
c.3232G>T
(p.ORF15+E446fs)
p.E1031fs
(p.ORF15+E446fs)
p.G1032fs
(p.ORF15+G447fs)
p.E1033fs
(p.ORF15+E448fs)
p.R1059fs
(p.ORF15+R474fs)
p.E1071X
(p.ORF15+E486X)
p.E1010fs
(p.ORF15+E425fs)
p.E1078X
ORF15
XLRP
Garica-Hoyos et al. 2006
ORF15
XLRP
Vervoort et al. 2000
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Pelletier et al. 2 007
ORF15
XLRP
Shu et al. 2007
ORF15
Atrophic MD
Ayyagari et al. 2002
ORF15
XLRP
Chang et al. 2007
ORF15
XLRP
Pelletier et al. 2007
ORF15
XLCRD
Ebenezer et al. 2003
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Sharon et a l. 2003
ORF15
XLRP
Itabashi et al. 20 04
ORF15
XLRP
Garica-Hoyos et al. 2006
ORF15
XLRP
Jin et al. 2005
ORF15
XLRP
Jin et al. 2007
ORF15
XLRP
Vervoort et al. 2000
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Pusch et al. 2002
ORF15
XLRP
Bader et al. 2003
ORF15
XLRP
ORF15
XLRP
Sharon et al. 2003
Pelletier et al. 2007
Sharon et al. 2003
ORF15
XLRP
ORF15
XLRP
Prokisch et al. 2007
Roux et al. Unpublished
Vervoort et al. 2000
ORF15
XLRP
Shu et al. 2 007
ORF15
XLRP
Breuer et al. 2002
ORF15
XLRP
Bader et al. 2003;
Sharon et al. 2003
ORF15
XLCRD
Demirci et al. 2002
ORF15
XLCRD
ORF15
XLRP
Demirci et al. 2002;
Yang et al. 2002
Vervoort et al. 2000
ORF15
XLRP
Garica-Hoyos et al. 2006
ORF15
XLRP
Sharon et al. 2003
ORF15
XLRP
Pelletier et al. 2007
ORF15
XLRP
Pusch et al. 20 02
(g.ORF15+1479G>T)
(p.ORF15+E493X)
c.3316_3319delAAGT
p.K1106fs
(g.ORF15+1563_1566delAAGT) (p.ORF15+K521fs)
c.3317_3318insA
p.K1106fs
(g.ORF15+1564_1565insA)
(p.ORF15+K521fs)
c.3394_3395delAA
p.N1132fs
(g.ORF15+1641_1642delAA)
(p.ORF15+N547fs)
ORF15
XLRP
Rebello et al. 2003
ORF15
XLRP
Demirci et al. 2002
ORF15
XLRP
Pelletier et al. 2007
RPGR exons 1-ORF15 sequence is based on Acc. No. BK005711; the traditional
nomenclature is shown in brackets based Acc. Nos. U57629 and AF286472.
Table 2 Mutations in RPGR introns
Localisation
Syndrome
References
Intron 1
c.28+1G>A (IVS1+1G>A)
XLRP
c.28+5G>A (IVS1+5G>A)
XLRP
Zito et al. 1999; Sharon et al. 2000; Zito et al. 2000;
Prokisch et al. 2007
Zito et al. 1999
XLRP
XLRP
Miano et al. 1999
Koenekoop et al. 2003
c.2486T>A (IVS36T>A)
XLRP
Sharon et al. 2000
Intron 4
c.310+1G>A (IVS4+1G>A)
c.310+1G>C (IVS4+1G>C)
c.310+3A>G (IVS4+3A>G)
XLRP
XLRP
XLRP
Sharon et al. 2000
Sharon et al. 2000; Breuer et al. 2002
Buraczynska et al. 1997; Pelletier et al. 2007
Intron 5
c.469+1G>T (IVS5+1G>T)
XLRP, PCD
Intron 2
c.1552A>G (IVS22A>G)
c.1551G>A (IVS21G>A)
Intron 3
Intron 6
c.619+5G>A (IVS6+5G>A)
c.619+9del (IVS6+9del)
XLRP
XLRP, PCD
Meindl et al. 1996; Dry et al. 1999
Zito et al. 2000a,b
Moore et al. 2006
Intron 7
c.778+1G>C (IVS7+1G>C)
c.778+5G>A (IVS7+5G>A)
c.7781G>A (IVS71G>A)
XLRP
XLRP
XLRP
Intron 8
c.934+1G>A (IVS8+1G>A)
c.934+1G>C (IVS8+1G>C)
X LRP
XLRP
Miano et al. 1999
Guevara-Fujita et al. 2001
Intron 9
c.1059+2T>C
c.1059+363G>A
XLRP
XLRP
Prokisch et al. 2007
Neidhardt et al. 2007
Shu et al. 2007
Buraczynska et al. 1997; Bauer et al. 1998
Sharon et al. 2003
Intron 10
c.1245+2T>C (IVS10+2T>C)
c.1245+3A>G (IVS10+3A>G)
c.12462A>C (IVS102A>C)
XLRP
XLRP
XLRP
Breuer et al. 2002
Andreasson et al. 1997; Fujita et al. 1997
Pelletier et al. 2007
Intron 11
c.1414+2T>A (IVS11+2T>A)
XLRP
Shu et al. 2007
Intron 13
c.1572+1G>A (IVS13+1G>A)
c.15738A>G (IVS138A>G)
c.15733C>G
c.15732A>G (IVS132A>G)
c.15731G>A (IVS131G>A)
XLRP
XLRP
XLRP
XLRP
XLRP
Shu et al. 2007
Andreasson et al. 1997, 2003; Fujita et al. 1997
Prokisch et al. 2007
Miano et al. 1999;Garcia-Hoyos et al. 2006
Sharon et al. 2000
RPGR sequence is based on BK005711, “+1" is “A” of “ATG”; the data included in
brackets show the previous nomenclature based on accession number U57629.
Table 3. Large RPGR deletions reported in XLRP and other subjects. McLeod s.,
McLeod syndrome; CGD, chronic granulomatous disease; XLCRD, X-linked cone
rod dystrophy.
Name
g.EX4_EX15
g.EX8+57_IVS8
Localisation breakpoints
g.EX8_EX10del
g.EX11_EX19del
g.EX14_EX15del
g.EXORF15_EX15Adel
MO deletion
SB deletion
g.Ex1_Ex11del
EX8+57 and IVS8+1317
+1317del 1374
IVS7 and IVS10
IVS13 and IVS15
(loss of 7kb EcoRI fragment)
IVS15+1.5kb and IVS15+7.9kb
(IVS15a+70)
RPGR IVS10 and
SRPX IVS1
RPGR IVS9 and
Telomeric of XK locus
c.1-80_1414+42delinsC
Phenotype
XLRP
XLRP
Reference
Prokisch et al. 2007
Vervoort et al. 2000
XLRP
Buraczynska et al.
1997; Andreasson et
al. 1997
XLRP
Bader et al. 2003
XLRP
Meindl et al. 1996;
Bader et al. 2003
XLRP/XLCRD Roepman et al. 1996;
Kirschner et al. 1999
Prokisch et al. 2007
XLRP
Meindl et al. 1996
XLRP, CGD
McLeod s.
XLRP
Meindl et al. 1996;
Brown et al. 1996
Jin et al. 2005
Table 4. Reported polymorphisms in the human RPGR gene.
Nucleotide change
Amino acid change
Exon/Intron
c.141T>G (200T>G)
c.153C>T (212C>T)
c.223A>G (282A>G)
c.227G>T (286G>T)
c.732G>A (791G>A)
c.785C>G (844C>G)
c.1033A>G (1092A>G)
c.1164G>A (1223G>A)
p.S47S
p.T51T
p.I75V
p. S76I
p.K244K
p.A262G
p.N345D
p.A388A
Exon 2
Exon 3
Exon 3
Exon 3
Exon 7
Exon 8
Exon 9
Exon 10
c.1164G>T (1223G>T)
c.1274G>A (1333G>A)
p.A388A
p.R425K
Exon 10
Exon 11
c.1291A>G (1350A>G)
p.I431V
Exon 11
c.1295A>G (1354A>G)
c.1367A>G (1426A>G)
c.1576_1578delCAA
(1635-1637delCAA)
c.1598C>T (1657C>T)
p.E432G
p.Q456R
p.Q526del
Exon 11
Exon 11
Exon 14
p.T533M
Exon 14
c.1687G>A (1746G>A)
c.1697G>A (1756G>A)
p.V563M
p.G566E
Exon 14
Exon 14
c.2223G>A
(g.ORF15+470G>A)
c.2341G>A
(g.ORF15+588G>A)
c.2401A>G
(g.ORF15+648A>G)
c.2447_2461del15
(g.ORF15+694_708del15)
c.2501_2572del21
(g.ORF15+748_768del21)
c.2541_2561del21
(g.ORF15+788_808del21)
c.2606_2620del15
(g.ORF15+853_867del15)
c.2615_2616ins21
(g.ORF15+862_863ins21)
c.2665_2667delGAG
(g.ORF15+912_914delGAG)
c.2667_2669delGGA
(g.ORF15+914_916delGGA)
c.2670_2744dup75
(g.ORF15+917_991dup75)
c.2717_2719delAGG
(g.ORF15+964_966delAGG)
c.2804_2824dup21
(g.ORF15+1051_1071dup21)
c.2820_2840dup21
(g.ORF15+1067_1087dup21)
c.2884G>A
(g.ORF15+1131G>A)
c.2903_2923dup21
(g.ORF15+1150_1170dup21)
c.2918_2938dup21
(g.ORF15+1165_1185dup21)
p.E741E
ORF15
(p.ORF15+E156E)
p.A781T
ORF15
( p.ORF15+A196T)
p.T801A
ORF15
(p.ORF15+T216A)
p.G816_E820del
ORF15
(p.ORF15+N231_P235del)
p.E834_ G840del
ORF15
(p.ORF15+E249_G255del)
p.E848_G854del
ORF15
(p.ORF15+E263-G269del)
p.E869_E873del
ORF15
(p.ORF15+E284-E288del)
p.E872_E873ins7
ORF15
(p.ORF15+E287ins7aa)
p.E889del
ORF15
(p.ORF15+E304del)
p.E890del
ORF15
(p.ORF15+E305del)
p.G891_E892ins25
ORF15
( p.ORF15+G306ins25aa)
p.E905del
ORF15
(p.ORF15+E321del)
ORF15
p.E935_E936ins7
ORF15
( p.ORF15+E350ins7aa)
p.E940_G941ins7
ORF15
(p.ORF15+E355ins7aa)
p.G962R
ORF15
(p.ORF15+G377R)
p.E968_E969ins7
ORF15
(p.ORF15+E383ins7aa)
p.E973_G974ins7
ORF15
(p.ORF15+E388ins7aa)
Reference
Miano et al. 1999
Breuer et al. 2002
Buracznska et al. 1997
Zito et al. 1999
Miano et al. 1999; Sharon et al. 2000
Buraczynska et al. 1997
Sharon et al. 2000; Demirci et al. 2002
Sharon et al. 2000;
Buraczynska et al. 1997
Breuer et al. 2002
Roepman et al. 1996a; Buraczynska et
al. 1997; Zito et al. 1999; Miano et al.
1999; Sharon et al. 2000; Zito et al.
2000b; Breuer et al. 2002
Roepman et al. 1996a; Buraczynska et
al. 1997; Miano et al. 1999; Sharon et
al. 2000; Breuer et al. 2002
Breuer et al. 2002
Breuer et al. 2002
Zito et al. 2000b; Breuer et al. 2002
Miano et al. 1999; Zito et al. 2000b;
Breuer et al. 2002
Breuer et al. 2002
Buraczynska et al. 1997; Zito et al.
1999; Miano et al. 1999
Sharon et al. 2000; Zito et al. 2000b
Bader et al. 2003
Vervoort et al. 2000; Bader et al. 2003
Vervoort et al. 2000
Vervoort et al. 2000; Bader et al. 2003
Yang et al. 2002
Rozet et al. 2002
Vervoort et al. 2000; Bader et al. 2003
Vervoort et al. 2000; Bader et al. 2003
Breuer et al. 2002
Rozet et al. 2002
Vervoort et al. 2000; Breuer et al.
2002; Bader et al. 2003
Bader et al. 2003
Breuer et al. 2002
Breuer et al. 2002
Vervoort et al. 2000
Bader et al. 2003
Rozet et al. 2002
Vervoort et al. 2000
c.2973_2987del15
(g..ORF15+1220_1234del15)
c.3051_3062del12
(g.ORF15+1298_1309del12)
c.3060_3071del12
(g.ORF15+1307_1318del12)
c.3061_3072del12
(g.ORF15+1308_1319del12)
c.3074_3085del12
(g.ORF15+1321_1332del12)
c.3219C>T
(g.ORF15+1466C>T)
c.3231T>A
(g.ORF15+1478T>A)
c.3396T>C
(g.ORF15+1643T>C)
c.3428A>G
(g.ORF15+1675A>G)
c.3430A>G
(g.ORF15+1677A>G)
c.2302C>A (2361C>A)
c.2915A>G (IVS115A>G)
p.E992_E996del
(p.ORF15+407-411del)
p.E1018_V1021del
(p.ORF15+433-436del)
p.V1021_E1024del
(p.ORF15+436-439del)
p.V1021_E1024
(p.ORF15+436-439del)
p.V1025_E1028del
(p.ORF15+440-443del)
p.G1073G
(p.ORF15+G488G)
p.N1077K
(p.ORF15+N492K)
p.N1132N
(p.ORF15+N547N)
p.N1143S
(p.ORF15+N558S)
p.I1144V
(p.ORF15+I559V)
p.P768T
ORF15
Breuer et al. 2002
ORF15
Breuer et al. 2002
ORF15
ORF15
Vervoort et al. 2000; Demirci et al.
2002; Bader et al. 2003
Breuer et al. 2002; Bader et al. 2 003
ORF15
Vervoort et al. 2000; Bader et al. 2003
ORF15
Vervoort et al. 2000
ORF15
Bader et al. 2003
ORF15
Vervoort et al. 2000
ORF15
Jin et al. 2005
ORF15
Vervoort et al. 2000; Bader et al. 2003
Exon 19
Intron 1
Fishman et al. 1998b
Buraczynska et al. 1997;
Sharon et al. 2000; Breuer et al. 2002
Buraczynska et al. 1997; Miano et
al. 1999; Sharon et al. 2000; Breuer
et al. 2002
Sharon et al. 2000
Sharon et al. 2000
Miano et al. 1999
Miano et al. 1999; Sharon et al.
2000; Breuer et al. 2002
Sharon et al. 2000
Sharon et al. 2000
Sharon et al. 2000; Breuer et al. 2002
Buraczynska et al. 1997; Sharon
et al. 2000; Breuer et al. 2002
Sharon et al. 2000
Sharon et al. 2000; Breuer et al. 2002
Buracznska et al. 1997
Buracznska et al. 1997; Miano et al.
1999; Sharon et al. 2000; Zito et al.
2000b; Breuer et al. 2002
Breuer et al. 2002
Miano et al. 1999; Sharon et al.
2000; Breuer et al. 2002
Buraczynska et al. 1997; Miano et
al. 1999; Sharon et al. 2000; Zito et
al. 2000b; Breuer et al. 2002
c.619+16A>G (IVS6+16A>G)
Intron 6
c.62041T>C (IVS641T>C)
c.124613delC (IVS1013del C)
c.1507130T>C (IVS12130T>C)
c.1507101T>A (IVS12-101T>A)
Intron 6
Intron 10
Intron 12
Intron 12
c.1507101_104del4 (IVS12101_104del4)
c.1507101T>AA (IVS12101T>AA)
c.1507101ins1 (IVS12100ins1)
c.150797T>C (IVS1297T>C)
Intron 12
Intron 12
Intron 12
Intron 12
c.150792_93del2 (IVS12-92_93del2)
c.150793ins2 (IVS1293ins2)
c.150768T>C (IVS1268T>C)
c.1572+11A>G (IVS13+11A>G)
Intron 12
Intron 12
Intron 12
Intron 13
c.2092137T>A (IVS16137T>A)
c.2149+46C>T (IVS17+46C>T)
Intron 16
Intron 17
c.2241+11T>C (IVS18+11T>C)
Intron 18
RPGR exons 1-ORF15 sequence is based on BK005711; RPGR exon 19 and introns 16-18 is based U57629; “+1"
is “A” of “ATG”; the data included in brackets show the traditional nomenclature based on U57629 and AF286472
sequences.