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Mutation Database
Mutations of the Rhodopsin Kinase Gene

Recent update from: 28.07.99


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

unconfirmed uc 0 0





not conserved nc 0 0





conserved c 0 0





cosegregation not tested cnt 0 0





Mutation map




Map

ADRP Glu 130 Gln GAG-CAG 0390 1
cnt, uc

(2)
ADRP Asn 330 Ser AAT-AGT 0989 4
nc, c

(2)
ADRP Arg 438 His CGC-CAC 1313 6
c, nc

(2)
ADRP Cys 514 Ser TGC-TCC 1541 7



(2)
ADRP Ser 536 Leu TCG-TTG 1607 7
uc, nc

(2)
ARRP 355delG GCC-_CC 0355 1



(2)
ARRP Thr 298 Met ACG-ATG 0893 3



(2)
ARRP Met 522 Thr ATG-ACG 1565 7
c, cnt

(2)
CSNB 1602del 4bp GCTCGGACGG- GCT____CGG 1602 7

CD972179
(3)
Oguchi disease del Exon 5
1071 5



(3)
Oguchi disease Val 380 Asp GTC-GAC 1139 7
Heterozygous
Additionally 1607del4bp
Non-functional gene product
CM971199
(3) (1)
Oguchi disease 1607del 4bp TCGGAC-T____C 1607

Truncated gene product lacks 21 AA

(3) (1)
Polymorphism Tyr 352 Tyr
1056 4



(2)
Polymorphism Pro 361 Pro
1083 5



(2)
Polymorphism Thr 525 Thr
1575 7



(2)

References

1. Khani, S.C., Nielsen, L., and Vogt, T.W. Biochemistry Of Wild-Type And Mutant Forms Of Human Rhodopsin Kinase From Patients With Oguchi Disease. 1998; Invest.Ophthalmol.Vis.Sci. 39: S914
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2. Yamamoto, S., Khani, S.C., McGee, T., Berson, E.L., and Dryja, T.P. Screen For Mutations In The Human Rhodopsin Kinase Gene In Patients With Retinitis Pigmentosa. 1996; Invest.Ophthalmol.Vis.Sci. S991
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3. Yamamoto, S., Sippel, K.C., Berson, E.L., and Dryja, T.P. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 1997; Nat.Gen. 15: 175 - 178.
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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