Scientific Newsletter
Mutations of the Rhodopsin Kinase Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Rhodopsin Kinase Gene |
Recent update from: 28.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
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| unconfirmed | uc | 0 | 0 |
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| not conserved | nc | 0 | 0 |
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| conserved | c | 0 | 0 |
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| cosegregation not tested | cnt | 0 | 0 |
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| Mutation map |
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Map |
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| ADRP | Glu 130 Gln | GAG-CAG | 0390 | 1 | cnt, uc |
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(2) | |
| ADRP | Asn 330 Ser | AAT-AGT | 0989 | 4 | nc, c |
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(2) | |
| ADRP | Arg 438 His | CGC-CAC | 1313 | 6 | c, nc |
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(2) | |
| ADRP | Cys 514 Ser | TGC-TCC | 1541 | 7 |
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(2) | |
| ADRP | Ser 536 Leu | TCG-TTG | 1607 | 7 | uc, nc |
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(2) | |
| ARRP | 355delG | GCC-_CC | 0355 | 1 |
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(2) | |
| ARRP | Thr 298 Met | ACG-ATG | 0893 | 3 |
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(2) | |
| ARRP | Met 522 Thr | ATG-ACG | 1565 | 7 | c, cnt |
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(2) | |
| CSNB | 1602del 4bp | GCTCGGACGG- GCT____CGG | 1602 | 7 |
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CD972179 |
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(3) | |
| Oguchi disease | del Exon 5 | 1071 | 5 |
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(3) | ||
| Oguchi disease | Val 380 Asp | GTC-GAC | 1139 | 7 |
Heterozygous Additionally 1607del4bp Non-functional gene product |
CM971199 |
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(3) (1) | |
| Oguchi disease | 1607del 4bp | TCGGAC-T____C | 1607 | Truncated gene product lacks 21 AA |
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(3) (1) | ||
| Polymorphism | Tyr 352 Tyr | 1056 | 4 |
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(2) | ||
| Polymorphism | Pro 361 Pro | 1083 | 5 |
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(2) | ||
| Polymorphism | Thr 525 Thr | 1575 | 7 |
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(2) |
References
1. Khani, S.C., Nielsen, L., and Vogt, T.W. Biochemistry Of Wild-Type And Mutant Forms Of Human Rhodopsin Kinase From Patients With Oguchi Disease. 1998; Invest.Ophthalmol.Vis.Sci. 39: S914 2. Yamamoto, S., Khani, S.C., McGee, T., Berson, E.L., and Dryja, T.P. Screen For Mutations In The Human Rhodopsin Kinase Gene In Patients With Retinitis Pigmentosa. 1996; Invest.Ophthalmol.Vis.Sci. S991 3. Yamamoto, S., Sippel, K.C., Berson, E.L., and Dryja, T.P. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 1997; Nat.Gen. 15: 175 - 178.
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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