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Scientific Newsletter


Mutation Database
Mutations of the Transducin Subunits

Recent update from: 18.07.99


Transducin, Rod alpha Subunit
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

Mutation map




Map

CSNB (Nougaret) Gly 38 Asp GGT-GAT
2 -HphI G38 forms hydrogen bonds to GTP/GDP CM960756
(1)

Transducin, Cone alpha subunit
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Polymorphism Val 173 Met GTG-ATG 4360 4
Heterozygous
Two controls positive


(3)
Stargardt's disease Val 124 Met GTG-ATG
4
Heterozygous
One control was positive


(4)
Stargardt's disease Asp 238 Asp GAT-GAC
6
Heterozygous
Silent change


(4)

Transducin, beta 3 Subunit
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Polymorphism IVS4+38g-a g-a
IVS4



(2)
Polymorphism IVS4+9insg ins g
IVS4



(2)
Polymorphism Gly 272 Ser g-a
9



(2)
Polymorphism Ser 275 Ser c-t 825 9



(2)
Transducin, gamma 2 Subunit
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Polymorphism -31g-t g-t -031 5'UTR



(2)
Polymorphism IVS3+17delc del c
3'UTR



(2)
Polymorphism Leu 11 Phe g-t
2



(2)
Polymorphism Gln 17 Arg a-g
2



(2)

References

1. Dryja, T.P., Hahn, L.B., Reboul, T., and Arnaud, B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 1996; Nat.Genet. 13: 358 - 360.
Goto Top Link to PudMed

2. Gao, Y.Q., Danciger, M., Akhmedov, N.B., Zhao, D.Y., Heckenlively, J.R., Fishman, G.A., Weleber, R.G., Jacobson, S.G., and Farber, D.B. Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. 1998; Mol.Vis. 4: 16
Goto Top Link to PudMed
Human Mutation Online

3. Gerber, S., Rozet, J.M., Bonneau, D., Souied, E., Weissenbach, J., Frezal, J., Munnich, A., and Kaplan, J. Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. 1995; Hum.Genet. 95: 382 - 384.
Goto Top Link to PudMed

4. Magovcevic, I., Weremowicz, S., Morton, C.C., Fong, S.L., Berson, E.L., and Dryja, T.P. Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. 1995; Genomics. 25: 288 - 290.
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