Scientific Newsletter
Mutations of the Protein Kinase C g
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Protein Kinase C g |
Recent update from: 25.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| ADRP, RP11 | Ser 659 Arg | AGC-AGA | 18 | +AciI |
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CM981595 |
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(1) | |
| Polymorphism | Asn 189 Asn | AAT-AAC |
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|
|
(1) | |||
| Polymorphism | Gly 411 Gly | GGC-GGT |
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|
|
(1) | |||
| Polymorphism | Phe 647 Phe | TTT-TTC | 18 |
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|
|
(1) | ||
| Rare Variant | Arg 141 Cys |
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|
|
(1) | ||||
| Rare Variant | His 415 Gln |
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|
|
(1) | ||||
| Rare Variant | Ala 523 Asp |
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|
|
(1) | ||||
| Rare Variant | IVS16+39inst | ins t | IVS16 |
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|
|
(1) |
References
1. al Maghtheh, M., Vithana, E.N., Inglehearn, C.F., Moore, T., Bird, A.C., and Bhattacharya, S.S. Segregation of a PRKCG mutation in two RP11 families [letter]. 1998; Am.J.Hum.Genet. 62: 1248 - 1252.
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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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