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Scientific Newsletter


Mutation Database
Mutations of the Arrestin Gene

Recent update from: 05.08.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ARRP 1147delA AAC-_AC 1147


CD951815
(3)
Oguchi disease Arg 193 ter CGA-TGA



CM971211
(2)
To online reference
Oguchi disease 1147delA AAC-_AC 1147


CD951815
(1)
Polymorphism IVS16+7c-t tcg-ttg
IVS16



(4)
Polymorphism IVS1-22inst tc_ta-tctta
IVS1



(4)
Polymorphism IVS5+11t-c tcc-ttc
IVS5



(4)
Polymorphism IVS5+23c-t ccc-ctc
IVS5



(4)
Polymorphism IVS4+25g-a ggc-gac
IVS4



(4)
Polymorphism IVS7+18g-c tgc-tcc
IVS7



(4)
Polymorphism IVS4+66g-a tgg-tag
IVS4



(4)
Polymorphism IVS9-18c-a tcc-tac
IVS9



(4)
Polymorphism IVS10-26a-g aaa-aga
IVS10



(4)
Polymorphism IVS10-25a-g aat-agt
IVS10



(4)
Polymorphism IVS15+21t-g gtg-ggg
IVS15



(4)
Polymorphism IVS15+87a-c cac-ccc
IVS15



(4)
Polymorphism IVS6+35t-c att-act
IVS6



(4)
Polymorphism Gly 31 Gly GGG-GGA
2



(4)
Polymorphism Cys 67 Cys TGC-TGT
5



(4)
Polymorphism Ile 76 Val ATT-GTT
05



(4)
Polymorphism Ile 77 Val GAC-GAT
5



(4)
Polymorphism Arg 84 Cys CGC-TGC
5
Heterozygous

(4)
Polymorphism Leu 107 Leu CTG-CTC
5



(4)
Polymorphism Thr 125 Met ACG-ATG





(4)
Polymorphism Ala 163 Ala GCC-GCT





(4)
Polymorphism Leu 288 Leu CTG-TTG





(4)
Polymorphism Pro 364 Leu CCT-CTT





(4)
Polymorphism Val 378 Ile GTT-ATT
15



(4)
Polymorphism Arg 384 Cys CGC-TGC
15
Homozygous

(4)
Polymorphism Codon 403

15
Multiallelic

(4)

References

1. Fuchs, S., Nakazawa, M., Maw, M., Tamai, M., Oguchi, Y., and Gal, A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 1995; Nat.Genet. 10: 360 - 362.
Goto Top Link to PudMed

2. Maw, M., Kumaramanickavel, G., Kar, B., John, S., Bridges, C.D., and Denton, M. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. 1998; Hum.Mutat. Suppl 1: S317 - S319.
Goto Top Link to PudMed

3. Nakazawa, M., Wada, Y., and Tamai, M. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 1998; Arch.Ophthalmol. 116: 498 - 501.
Goto Top Link to PudMed

4. Sippel, K.C., DeStefano, J.D., Berson, E.L., and Dryja, T.P. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. 1998; Invest.Ophthalmol.Vis.Sci. 39: 665 - 670.
Goto Top Link to PudMed


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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