Scientific Newsletter
Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E) |
Recent update from: 18.03.2001
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| PXE | Microdeletion (16,5 kb) | 3736 | 27 - 29 |
Compound: 3736-1g-a, R1141X, R1164X embedded in AluSX repeat |
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(1)
(2) |
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| PXE | 3136-1g-a | g-a | 3736 | 27 | AciI |
Compound: microdeletion |
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|
(1)
(2) |
| PXE | Arg 1138 Trp | C-T | 3412 | 24 | MspI |
Compound: R1268Q, single heterozygote |
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(1) |
| PXE | Arg 1141 ter | C-T | 3421 | 24 | BsiYI |
Compound: R1268Q, microdeletion, single heterozygote |
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(1) |
| PXE | Arg 1164 ter | 27 |
Compound: microdeletion |
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|
(2) | |||
| PXE | Arg 1268 Gln | G-A | 3803 | 27 | BstXI |
Compound: R1141X, R1138Q, single heterozygote |
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(1) |
References
1. Ringpfeil,F., Lebwohl,M.G., Christiano,A.M., and Uitto,J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 6001-6006.
2. Ringpfeil,F., Nakano,A., Uitto,J., and Pulkkinen,L. Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum. 2001; Am.J.Hum.Genet. 68: 642-652.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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