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Scientific Newsletter


Mutation Database
Mutations of the RPE-Retinal G-Protein-Coupled Receptor (RGR)

Recent update from: 03.01.2000



Phenotype Mutation Base change Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ADRP 841insG GGA-GGG A 841 7

  • Heterozygous
  • Mutation segregates in the family of patient 060-012
  • Mutation is present heterozygously in an affected sibling
  • Deceased father is said to be affected


(1)
ARRP Ser 66 Arg AGC-CGC 212


  • Homozygous
  • Mutation segregates in the family of patient 218-360
  • Mutation is present homozygously in all affected relatives


(1)
Polymorphism IVS6+16c-t c-t
IVS5

Minor allel frequency 0.07


(1)
Polymorphism Leu 7 Leu CTG-TTG 035 1

Minor allel frequency 0.07


(1)
Polymorphism Thr 9 Thr ACC-ACT 043 1

Minor allel frequency 0.47


(1)
Polymorphism Tyr 153 Tyr TAC-TAT 475


Minor allel frequency 0.37


(1)
Unlikely pathogenic IVS6+5a-g a-g
IVS6

Heterozygous in simplex cases


(1)
Unlikely pathogenic IVS5-12a-g a-g
IVS5

Heterozygous in simplex cases


(1)
Unlikely pathogenic IVS6+3a-g a-g
IVS6

Heterozygous in simplex cases


(1)
Unlikely pathogenic Val 132 Leu GTG-TGG 411


Heterozygous in simplex cases


(1)
Unlikely pathogenic His 152 Asn CAC-AAC 471


Heterozygous in simplex cases


(1)
Unlikely pathogenic Ala 243 Thr GCA-ACA 715


Heterozygous in simplex cases


(1)
Unlikely pathogenic Ser 241 Phe TCC-TTC 744


Heterozygous in simplex and ARRP cases
1 homozygous simplex case


(1)

References

1. Morimura, H., Saindelle-Ribeaudeau, F., Berson, E.L., and Dryja, T.P. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 1999; Nat.Genet. 23: 393 - 394.
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz