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Scientific Newsletter


Mutation Database
Mutations of the Phosducin Gene

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
AZOOR Asp 174 Lys AAT-AAG 522 4
non-pathogenic
Heterozygous


(1)
Polymorphism 1131a-g a-g 1131 4
Heterozygous
Compound
-9g-a polymorphism


(1)
Polymorphism 803a-g a-g 803 4
Heterozygous
In LCA patient


(1)
Polymorphism -1083t-g t-g -1083 5'UTR
T=74%
G=26%
PIC: 0.39


(2)
Polymorphism -488 del t atc-a_c -488 5'UTR
T=87%
PIC: 0.23


(2)
Polymorphism -673 ins g a_a-aga -673 5'UTR
G=51%
PIC: 0.5


(2)
Polymorphism -9g-a g-a -9 2
Heterozygous
Compound
1131a-g polymorphism


(1)
USH2 Gly 178 Arg GGG-GGA 532 4
non-pathogenic
Heterozygous


(1)

References

1. Ara Iwata, F., Jacobson, S.G., Gass, J.D., Hotta, Y., Fujiki, K., Hayakawa, M., and Inana, G. Analysis of phosducin as a candidate gene for retinopathies. 1996; Ophthalmic Genet. 17: 3 - 14.
Goto Top Link to PudMed

2. Mansergh, F.C., Jordan, S.A., Farrar, G.J., Kumarsingh, R., Gal, A., Bhattacharya, S., and Humphries, P. Three sequence polymorphisms in the PDC gene. 1994; Hum.Mol.Genet. 3: 2077
Goto Top Link to PudMed


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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