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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


(1)
(2)
PXE 3136-1g-a g-a 3736 27 AciI Compound:
microdeletion


(1)
(2)
PXE Arg 1138 Trp C-T 3412 24 MspI Compound:
R1268Q,
single heterozygote


(1)
PXE Arg 1141 ter C-T 3421 24 BsiYI Compound:
R1268Q,
microdeletion,
single heterozygote


(1)
PXE Arg 1164 ter

27
Compound:
microdeletion


(2)
PXE Arg 1268 Gln G-A 3803 27 BstXI Compound:
R1141X,
R1138Q,
single heterozygote


(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.
Link to PudMed
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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.
Link to PudMed
Goto Top


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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
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Head: Prof. Dr. med. Birgit Lorenz