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Scientific Newsletter


Mutation Database
Mutations of the Cyclic Nucleotide-gated Cation Channel

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

Mutation map




Map


ARRP Glu 76 ter GAG-TAG


Heterozygous
No maternal allele
N-terminus
CM950309 123825-0001 (1)
ARRP Lys 139 ter AAA-TAA


Heterozygous
Compound
S316F
N-terminus
CM950310 123825-0002 (1)
ARRP Ser 316 Phe TCT-TTT


Heterozygous
Compound
L319X
Heterozygous in a patient with adRP (6003)
5th membrane domain
CM950311 123825-0003 (1)
ARRP Arg 654 1 bp del AAA-AA_


Homozygous
C-terminus
CD951622 123825-0004 (1)
Polymorphism Arg 28 Gln CGA-CAA





(1)
Polymorphism Glu 100 Glu GAA-GAG





(1)
Polymorphism Asp 114 Asn GAT-AAT





(1)
Polymorphism Thr 469 Thr ACA-ACG





(1)
Polymorphism Phe 540 Phe TTC-TTT





(1)
Polymorphism IVS3-29a-t a-t
IVS3



(1)
Polymorphism IVS5-26c-t c-t
IVS5



(1)
Polymorphism Poly (A) repeat

IVS8



(1)

References

1. Dryja, T.P., Finn, J.T., Peng, Y.W., McGee, T.L., Berson, E.L., and Yau, K.W. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 10177 - 10181.
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Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
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Head: Prof. Dr. med. Birgit Lorenz