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Scientific Newsletter


Mutation Database
Mutations of the Cone Cyclic Nucleotide-gated Cation Channel

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Achromatopsia Pro 163 Leu C-T 0528 5 -NlaIV Homozygous

(1)
Achromatopsia Arg 283 Trp C-T 0887 7 -MspI Homozygous

(1)
Achromatopsia Arg 283 Gln G-A 0888 7
Heterozygous

(1)
Achromatopsia Thr 291 Arg C-G 0912 7
Heterozygous

(1)
Achromatopsia Arg 411 Trp C-T 1268 7 +NlaIII Heterozygous

(1)
Achromatopsia Val 529 Met G-A 1625 7 +NcoI Heterozygous

(1)
Achromatopsia Phe 547 Leu C-A 1681 7
Heterozygous

(1)
Achromatopsia Gly 557 Arg G-A 1709 7
Heterozygous

(1)
Polymorphism IVS4+91g-c g-c
IVS4



(1)
Polymorphism IVS2+46g-t g-t
IVS2



(1)
Polymorphism IVS2+16g-a g-a
IVS2



(1)
Polymorphism Asp 24 Asp C-T 0112 1



(1)
Polymorphism Thr 66 Thr C-T 0238 2



(1)
Polymorphism Thr 153 Met C-T 0498 5 -BbsI


(1)

References

1. Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., and Wissinger, B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257 - 259.
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This site is maintained and edited by
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