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Mutation Database
 Mutations of the Rhodopsin Gene

Recent update from: 05.08.2000

Mutations in the Rhodopsin Gene

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

A Onset of nightblindness in early life, rod photoreceptor-mediated function severely abnormal 0 0



(12)

IIb Accumulate to significant lower levels, appear predominantly as aggregates in immunoblots, regenerate with 11-cis-Ral to variable extents or not at all, and show intracellular and membrane localization 0 0



(58)

uc unconfirmed 0 0






B2 No regional predilection of disease, in advanced stages indistiguishable for type B1 0 0



(12)

B1 Retinal regions with severe disease as well as regions of less affection 0 0



(12)

pm possible mistake 0 0






nc no cosegregation 0 0






I Resemble wild type in yield, electrophoretic pattern, regenerability with 11-cis-Ral, and subcellular localization 0 0



(58)

IIa Accumulate to significant lower levels, appear predominantly as aggregates in immunoblots, regenerate with 11-cis-Ral to variable extents or not at all, and show predominantly intracellular localization 0 0



(58)

Mutation map




Map


ADRP Thr 4 Lys ACA-AAA 0308 1
cone-rod
 CM930639
(11)
ADRP Asn 15 Ser AAT-AAG 0341 1 +BsrI sect.
 CM930640 180380-0029 (32)
ADRP Thr 17 Met ACG-ATG 0347 1
IIa, sect., B1
 CM910324 180380-0006 (58)
ADRP Pro 23 Leu CCC-CTC 0362 1
IIa
 CM910325
(15)
ADRP Pro 23 His CCC-CAC 0362 1
IIa, sect., B1
Mixture of correct and misfolded protein 		CM900197 180380-0001 (17)
(33)
ADRP Gln 28 His CAG-CAT 0378 1 -RsaI, -ScaI
CM930641
(11)
ADRP Leu 40 Arg CTG-GTG 0412 1 +Sau96AI
CM941237
(31)
ADRP Met 44 Thr ATG-ACG 0425 1 -NlaIII diffuse
 CM941238
(41)
ADRP Phe 45 Leu TTT-CTT 0427 1
I
 CM910326 180380-0007 (58)
ADRP Leu 46 Arg CTG-CGG 0431 1
severe
 CM930642
(44)
ADRP Gly 51 Arg GGC-CGC 0445 1 +CfaI
CM930644 180380-0034 (13)
ADRP Gly 51 Val GGC-GTC 0446 1 +HaeIII I
Abnormal bleaching behavior 		CM910357
(15)
(27)
ADRP Gly 51 Ala GGC-GCC 0446 1 +CfoI, +HaeI, +HaeIII uc, B2
Normal bleaching behavior 		CM930643
(34)
ADRP Pro 53 Arg CCC-CGC 0452 1 -ApaI IIb
 CM920608 180380-0024 (29)
ADRP Thr 58 Arg ACG-AGG 0468 1 +DdeI IIb, B1
 CM900198 180380-0004 (15)
ADRP Gln 64 ter CAG-TAG 0484 1
B2
 CM930645
(34)
ADRP 0496del12bp AAGCTGCGCACGCCTCTC- AAG____________CTC 0496 1 +AluI, -CfoI
CD910550 180380-0019 (30)
ADRP Val 87 Asp GTC-GAC 0554 1 +AvaI, -MspI, -AsuI IIb, B1
 CM910328 180380-0008 (58)
ADRP Gly 89 Asp GGT-GAT 0560 1 +HphI, -StyI IIb, A?
Abnormal bleaching behavior 		CM910329 180380-0009 (58)
(27)
ADRP Gly 106 Arg GGG-AGG 0610 1 -MspI, -ApaI, -AsuI sect.
 CM920609 180380-0025 (29)
ADRP Gly 106 Trp GGG-TGG 0610 1 -MspI, -AsuI IIb, B1
 CM910330 180380-0010 (58)
ADRP Gly 109 Arg GGA-AGA 0619 1 -FokI
CM971198
(24)
(7)
To online reference
ADRP Cys 110 Tyr TGC-TAC 0623 1 -BsiYI, -FokI, +SfaNI II, regional
Late onset
Mild progression
Complete penetrance 		CM930647 180380-0035 (61)
ADRP Cys 110 Phe TGC-TTC 0623 1 +HinfI, +SfaNI sine pigm.
 CM941239
(20)
ADRP Gly 114 Asp GGC-GAC 0635 1

CM941240 180380-0036 (61)
ADRP Gly 114 Val GGC-GTC 0635 1 -PstI


(37)
ADRP Leu 125 Arg CTG-CGG 2451 2 +MspI, -AvaII IIb
 CM910331
(13)
ADRP Ser 127 Phe TCC-TTC 2457 2 -StyI
CM941242
(53)
ADRP Leu 131 Pro CTG-CCG 2469 2 +NciI, -MvaI
CM941242
(20)
ADRP Arg 135 Gly CGG-GGG 2480 2 -AciI IIb, A
 CM930648
(34)
ADRP Arg 135 Trp CGG-TGG 2480 2 +PflMI, -AciI IIb, A
 CM910332 180380-0012 (58)
(7)
ADRP Arg 135 Leu CGG-CTG 2481 2 -RsaI, +AluI, -AciI IIb, A
 CM920610 180380-0011 (58)
ADRP Arg 135 Pro CGG-CCG 2481 2 -AciI


(43)
ADRP Tyr 136 ter TAC-TAA 2485 2 -RsaI
CM961175
(49)
ADRP Val 137 Met GTG-ATG 2486 2 -MaeII, +NlaIII
Some affected members with mild symptoms
RP may not be caused by these mutation or not fully penetrant 		CM951176
(6)
ADRP Cys 140 Ser TGT-TCT 2496 2

CM930649
(34)
ADRP Ala 164 Val GCG-GTG 2568 2 -HhaI, -CfoI, -AciI
Abnormal bleaching behavior 		CM941245
(20)
(27)
ADRP Ala 164 Glu GCG-GAG 2568 2 +AluI, -AciI, -CfoI
CM941244 180380-0037 (61)
ADRP Cys 167 Arg TGC-CGC 2576 2 +AccII, +AciI IIb
Very early onset
cone function not completely compromised until age 18
disease progresses very slowly 		CM910333
(15)
ADRP Cys 167 Trp TGC-TGG 2578 2 +Cfr31I, -CfoI


(39)
ADRP Pro 171 Glu CCA-GAA 2588 2
?

(43)
ADRP Pro 171 Ser CCA-TCA 2588 2

CM941247 180380-0038 (61)
ADRP Pro 171 Leu CCA-CTA 2589 2
IIa
 CM910334
(15)
ADRP Pro 171 Gln CCA-CAA 2589 2 -XcmI
CM941246
(5)
ADRP IVS2-2a-g a-g 3811 IVS2



(36)
To online reference
ADRP Tyr 178 Asn TAC-AAC 3814 3 -RsaI
CM941248
(53)
ADRP Tyr 178 Cys TAC-TGC 3815 3 -RsaI IIa
 CM910335 180380-0013 (19)
ADRP Pro 180 Ala CCC-GCC 3820 3



(43)
ADRP Glu 181 Lys GAG-AAG 3823 3 -BsiYI IIa, D, A?
 CM910337
(15)
ADRP Gly 182 Ser GGC-AGC 3826 3 -HaeIII IIa, sect.
 CM910337 180380-0021 (51)
ADRP Gln 184 Pro CAG-CCG 3833 3 -PstI


(37)
ADRP Ser 186 Pro TCG-CCG 3838 3 -HgiAI IIa
 CM910338
(15)
ADRP Ser 186 Trp TCG-TGG 3839 3 -BsiI,-BssSI, -HgiAI


(47)
ADRP Cys 187 Tyr TGT-TAT 3842 3 -BssSI
CM951114
(50)
ADRP Gly 188 Arg GGA-AGA 3844 3
IIa
Completely misfolded protein 		CM910339
(15)
(33)
ADRP Gly 188 Glu GGA-GAA 3845 3 -HinfI IIa
 CM930650
(34)
ADRP Asp 190 Asn GAC-AAC 3850 3 -TaqI IIa, B1
 CM910341 180380-0017 (30)
ADRP Asp 190 Tyr GAC-TAC 3850 3 -TaqI sect.
 CM930651 180380-0027 (2)
ADRP Asp 190 Gly GAC-GGC 3851 3 -TaqI IIa
 CM910340 180380-0014 (58)
ADRP Thr 193 Met ACG-AUG 3860 3
B

(12)
ADRP Met 207 Arg ATG-AGG 3902 3 -NlaIII
CM920611 180380-0030 (18)
ADRP Val 209 Met ATG-GTG 3907 3 +NlaIII uc
 CM930652
(34)
ADRP His 211 Arg CAC-CGC 3916 3 +SalI, -AsuI IIa
 CM930653
(34)
ADRP His 211 Pro CAC-GAC 3917 3 -AsuI IIa
Abnormal bleaching behavior 		CM910342 180380-0018 (30)
(27)
ADRP Pro 215 Thr CCC-CTC 3925 3



(36)
To online reference
ADRP Met 216 Arg ATG-AGG 3932 3 +BstNI, -NlaIII
Totally blind by 60
Wax-pale optic disc
extremely attenuated vessels
concentric constriction of visual field
slow progression
early onset nightblindness 		CM941249
(25)
ADRP Met 216 Lys ATG-AAG 3932 3 -NlaIII


(3)
ADRP Phe 220 Cys TTT-TGT 3941 3

CM930654
(11)
ADRP Cys 222 Arg TGC-CGC 3946 3 +AciI
CM930655
(11)
ADRP 4162del3bp GTCATCATC-GTC___ATC 4162 4 +NlaIII IIa
 CD910551 180380-0005 (28)
ADRP 4188del3bp ATCTGC-ATC___ 4188 4

CD941766 180380-0039 (60)
ADRP Pro 267 Leu CCC-CTC 4198 4 +MspI IIa, sect.
Abnormal bleaching behavior 		CM910343 180380-0022 (51)
(27)
ADRP Pro 267 Arg CCC-CGC 4198 4 +CfoI, +HhaI
Abnormal bleaching behavior 		CM941250
(53)
(27)
ADRP Ser 270 Arg AGC-AGA 4208 4



(43)
ADRP Thr 289 Pro ACC-CCC 4263 4



(36)
To online reference
ADRP Lys 296 Glu AAG-GAG 4284 4

CM910344 180380-0016 (30)
ADRP Lys 296 Met AAG-ATG 4285 4
severe

(56)
ADRP Ser 297 Arg AGC-AGA 4289 4 -CfoI, -HhaI
CM941251
(53)
ADRP Gln 312 ter CAG-TAG 4332 4
B

(12)
ADRP IVS4+1g-t g-t 4335 IVS4 -NlaIV, -BamI
CS920773 180380-0026 (34)
ADRP 5145ins150bp 150 bp ins 5145 IVS4



(4)
ADRP IVS4-1g-t g-t 5169 IVS4

Mild phenotype 		CS961564
(40)
ADRP IVS4-1g-a g-a 5169 IVS4

CS941523
(8)
ADRP 5168del9bp
5168 5



(2)
ADRP Leu 328 Pro CTG-CCG 5213 5



(43)
ADRP 5225del17bp
5225 5 -StuI, -HaeIII, -MnlI IIa

(43)
ADRP 998ins4bp GCC TCT-GCA GGC CTC T 998 5 +PflMI, -AciI IIb, A

(7)
ADRP 5255del24bp
5255 5



(42)
ADRP 5256delC ACG-A_G 5256 5

CD920905
(26)
ADRP 5258del8bp ACGGAGACGAGCCA- ACG________CCA 5258 5

CD920906
(26)
ADRP Thr 342 Met ACG-ATG 5261 5



(55)
ADRP Gln 344 ter CAG-TAG 5267 5 +AluI, +MaeI, -MvaI I, B2
 CM910345 180380-0015 (58)
ADRP Val 345 Leu GTG-CTG 5270 5 -MvaI, +PvuII A
 CM941252 180380-0040 (60)
ADRP Val 345 Met GTG-ATG 5270 5 -MvaI, +AluI I
 CM910346
(15)
ADRP Ala 346 Pro GCC-CCC 5267 5

CM961177
(10)
ADRP Pro 347 Thr CCG-ACG 5270 5 -MspI, +BalI


(43)
ADRP Pro 347 Ala CCG-GCG 5270 5 +BstUI, -MspI
CM951115
(35)
ADRP Pro 347 Ser CCG-TCG 5270 5 -MspI I
 CM900200 180380-0003 (16)
ADRP Pro 347 Gln CCG-CAG 5271 5 -MspI, +MvaI
CM941253 180380-0041 (60)
ADRP Pro 347 Leu CCG-CTG 5271 5 -MspI, +MvaI I, A
 CM900199 180380-0002 (16)
ADRP Pro 347 Arg CCG-CGG 5271 5 -MspI, +SmaI
CM910347 180380-0020 (23)
ADRP ter 349 Glu TAA-GAA 5276 5 -DdeI
One of the most severe ADRP phenotypes

(9)
To online reference
ARRP Glu 150 Lys GAG-AAG 2525 2 +MboII
CM941243 180380-0033 (38)
ARRP Gly 174 Ser GGC-AGC 2597 2 -MspI


(21)
ARRP Glu 249 ter GAG-TAG 4143 4 -MnlI
CM920612 180380-0023 (45)
ARRP Gly 284 Ser GGT-AGT 4248 4 -AvaII, -AsuI


(47)
CSNB Gly 90 Asp GGC-GAC 0563 1

CM930646 180380-0032 (52)
CSNB Thr 94 Ser ACC-ATC 0575 1

Constitutively activates opsin as a result of the disruption of salt bridge between K296 and E113

(1)
CSNB Ala 292 Glu GCG-GAG 4273 4

CM930656 180380-0031 (14)
Polymorphism 269g-a g-a 0269 5'UTR +SacII


(15)
Polymorphism Val 104 Ile GTC-ATC 0604 1
nc

(34)
Polymorphism Pro 107 Pro CCC-CCT 0615 1 -ApaI, -NlaIV


(22)
Polymorphism -26A/G A/G -0026 5' UTR +PflMI, -AciI IIb, A

(7)
Polymorphism Gly 120 Gly GGC-GGT 0654 1 -AciI


(15)
Polymorphism 721c-t ccc ggg-cccagg 0721 IVS1



(59)
To online reference
Polymorphism (CA)n
2071 IVS1



(62)
Polymorphism Thr 160 Thr ACC-ACA 2557 2 -MvaI, -NlaIII


(57)
Polymorphism Ala 173 Ala GCC-GCT 2596 2 -MspI


(15)
Polymorphism IVS3+4c-t c-t 3982 IVS3 -RsaI


(16)
Polymorphism IVS3+62c-a c-a 3984 IVS3



(48)
Polymorphism IVS3+106g-a g-a 4048 IVS3





To online reference
Polymorphism Lys 248 Lys AAG-AAA 4142 4



(2)
Polymorphism IVS4-22g-a g-a 4334 IVS4 -PleI, -HinfI


(57)
Polymorphism Cys 323 Cys TGC-TGT 5200 5



(59)
To online reference
Polymorphism 5300g-t gt-tt 5300 3'UTR -HaeIII


(8)
Polymorphism 5311c-t c-t 5311 3'UTR +BsaHI




To online reference
Polymorphism 5312g-a g-a 5312 3'UTR



(46)
To online reference
Polymorphism 5321c-a c-a 5321 3'UTR



(16)
Retinitis punctata albescens Arg 135 Trp CGG-TGG 2480 2 -PflMI, -AciI


(54)

References

  1. Al Jandal,N., Kenna,P.F., Farrar,G.J., Findlay,J.B., Kiang,S., Humphries,M.M., and Humphries,P. A novel mutation in the rhodopsin gene results in autosomal dominant congenital night blindness. 1996; Am.J.Hum.Genet. 59: A245-A245
    Goto Top
  2. al Maghtheh,M., Gregory,C., Inglehearn,C., Hardcastle,A., and Bhattacharya,S. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 1993; Hum.Mutat. 2: 249-255.
    Goto Top Link to PudMed
  3. al Maghtheh,M., Inglehearn,C., Lunt,P., Jay,M., Bird,A., and Bhattacharya,S. Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. 1994; Hum.Mutat. 3: 409-410.
    Goto Top Link to PudMed
  4. al Maghtheh,M., Kim,R.Y., Hardcastle,A., Inglehearn,C., and Bhattacharya,S.S. A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family. 1994; Hum.Mol.Genet. 3: 205-206.
    Goto Top Link to PudMed
  5. Antinolo,G., Sanchez,B., Borrego,S., Rueda,T., Chaparro,P., and Cabeza,J.C. Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. 1994; Hum.Mol.Genet. 3: 1421-1421.
    Goto Top Link to PudMed
  6. Ayuso,C., Trujillo,M.J., Robledo,M., Ramos,C., Benitez,J., Martin Oses,F., del Rio,T., and Garcia Sandoval,B. Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: Phenotypic variation in both heterozygote and homozygote Val137Met mutant patients. 1996; Hum.Genet. 51-54.
    Goto Top Link to PudMed
  7. Bareil,C., Hamel,C., Pallares-Ruiz,N., Arnaud,B., Demaille,J., and Claustres,M. Molecular analysis of the rhodopsin gene in southern france: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4. 1999; Ophthalmic Genet. 20: 173-182.
    Goto Top Link to PudMed
  8. Bell,C., Converse,C.A., Hammer,H.M., Osborne,A., and Haites,N.E. Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four. 1994; British.Journal.of.Ophthalmology. 78: 933-938.
    Goto Top Link to PudMed
  9. Bessant,D.A., Khaliq,S., Hameed,A., Anwar,K., Payne,A.M., Mehdi,S.Q., and Bhattacharya,S.S. Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). 1999; Hum.Mutat.Online. 13: 83-83.
    Goto Top Link to PudMed
    Human Mutation Online
  10. Borrego,S., Sanchez,B., Ruiz,A., and Antinolo,G. Missense Mutation A346P In The Rhodopsin Gene In One Family With Autosomal Dominant Retinitis Pigmentosa. 1996; Hum.Mutat. 7: 180-181.
    Goto Top Link to PudMed
  11. Bunge,S., Wedemann,H., David,D., Terwilliger,D.J., van den Born,L.I., Aulehla Scholz,C., Samanns,C., Horn,M., Ott,J., and Schwinger,E. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. 1993; Genomics. 17: 230-233.
    Goto Top Link to PudMed
  12. Cideciyan,A.V., Hood,D.C., Huang,Y., Banin,E., Li,Z.Y., Stone,E.M., Milam,A.H., and Jacobson,S.G. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. 1998; Proc.Natl.Acad.Sci.U.S.A. 95: 7103-7108.
    Goto Top Link to PudMed
  13. Dryja,T.P. Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. 1992; Eye. 6: 1-10.
    Goto Top Link to PudMed
  14. Dryja,T.P., Berson,E.L., Rao,V.R., and Oprian,D.D. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 1993; Nat.Genet. 4: 280-283.
    Goto Top Link to PudMed
  15. Dryja,T.P., Hahn,L.B., Cowley,G.S., McGee,T.L., and Berson,E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. 1991; Proc.Natl.Acad.Sci.U.S.A. 88: 9370-9374.
    Goto Top Link to PudMed
  16. Dryja,T.P., McGee,T.L., Hahn,L.B., Cowley,G.S., Olsson,J.E., Reichel,E., Sandberg,M.A., and Berson,E.L. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 1990; N.Engl.J.Med. 323: 1302-1307.
    Goto Top Link to PudMed
  17. Dryja,T.P., McGee,T.L., Reichel,E., Hahn,L.B., Cowley,G.S., Yandell,D.W., Sandberg,M.A., and Berson,E.L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. 1990; Nature. 343: 364-366.
    Goto Top Link to PudMed
  18. Farrar,G.J., Findlay,J.B., Kumar Singh,R., Kenna,P., Humphries,M.M., Sharpe,E., and Humphries,P. Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. 1992; Hum.Mol.Genet. 1: 769-771.
    Goto Top Link to PudMed
  19. Farrar,G.J., Kenna,P., Redmond,R., Shiels,D., Mcwilliam,P., Humphries,M.M., Sharp,E.M., Jordan,S., Kumarsingh,R., and Humphries,P. Autosomal Dominant Retinitis-Pigmentosa - A Mutation in Codon 178 of the Rhodopsin Gene in Two Families of Celtic Origin. 1991; Genomics. 11: 1170-1171.
    Goto Top Link to PudMed
  20. Fuchs,S., Kranich,H., Denton,M.J., Zrenner,E., Bhattacharya,S.S., Humphries,P., and Gal,A. Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. 1994; Hum.Mol.Genet. 3: 1203-1203.
    Goto Top Link to PudMed
  21. Fujiki,K., Hotta,Y., Murakami,A., Yoshii,M., Hayakawa,M., Nicolas,M.G., Takeda,M., Yano,H., Kishishita,H., Yokoyama,T., and Kanai,A. Heterozygous Asn-15-Ser and Gly-174-Ser mutations in rhodopsin gene found in Japanese retinitis pigmentosa. 1995; Invest.Ophthalmol.Vis.Sci. Suppl.: S890
    Goto Top
  22. Gal,A., Apfelstedt-Sylla,E., Janecke,A.R., and Zrenner,E. Rhodopsin Mutations In Inherited Retinal Dystrophies And Dysfunctions. 1997; Prog.Ret.Eye.Res. 16: 51-79.
    Goto Top
  23. Gal,A., Artlich,A., Ludwig,M., Niemeyer,G., Olek,K., Schwinger,E., and Schinzel,A. Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. 1991; Genomics. 11: 468-470.
    Goto Top Link to PudMed
  24. Goliath,R., Bardien,S., September,A., Martin,R., Ramesar,R., and Greenberg,J. Rhodopsin Mutation G109R in a Family With Autosomal Dominant Retinitis Pigmentosa. 1997; Hum.Mutat. HUMU673
    Goto Top
  25. Haim,M., Grundmann,K., Gal,A., and Rosenberg,T. Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa. 1996; Ophthalmic Genet. 17: 193-197.
    Goto Top Link to PudMed
  26. Horn,M., Humphries,P., Kunisch,M., Marchese,C., Apfelstedt-Sylla,E., Fugi,L., Zrenner,E., Kenna,P., Gal,A., and Farrar,J. Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. 1992; Hum.Genet. 90: 255-257.
    Goto Top Link to PudMed
  27. Hwa,J., Garriga,P., Liu,X., and Khorana,H.G. Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled. 1997; Proc.Natl.Acad.Sci.U.S.A. 94: 10571-10576.
    Goto Top Link to PudMed
  28. Inglehearn,C.F., Bashir,R., Lester,D.H., Jay,M., Bird,A.C., and Bhattacharya,S.S. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. 1991; Am.J.Hum.Genet. 48: 26-30.
    Goto Top Link to PudMed
  29. Inglehearn,C.F., Keen,T.J., Bashir,R., Jay,M., Fitzke,F., Bird,A.C., Crombie,A., and Bhattacharya,S. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. 1992; Hum.Mol.Genet. 1: 41-45.
    Goto Top Link to PudMed
  30. Keen,T.J., Inglehearn,C.F., Kim,R., Bird,A.C., Bhattacharya,S.S., and Bhattacharya,S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. 1994; Hum.Mol.Genet. 3: 367-368.
    Goto Top Link to PudMed
  31. Kim,R.Y., al Maghtheh,M., Fitzke,F.W., Arden,G.B., Jay,M., Bhattacharya,S.S., and Bird,A.C. Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5. 1993; Arch.Ophthalmol. 111: 1518-1524.
    Goto Top Link to PudMed
  32. Kranich,H., Bartkowski,S., Denton,M.J., Krey,S., Dickinson,P., Duvigneau,C., and Gal,A. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. 1993; Hum.Mol.Genet. 2: 813-814.
    Goto Top Link to PudMed
  33. Liu,X., Garriga,P., and Khorana,H.G. Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa. 1996; Proc.Natl.Acad.Sci.U.S.A. 93: 4554-4559.
    Goto Top
  34. Macke,J.P., Davenport,C.M., Jacobson,S.G., Hennessey,J.C., Gonzalez Fernandez,F., Conway,B.P., Heckenlively,J., Palmer,R., Maumenee,I.H., and Sieving,P. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. 1993; Am.J.Hum.Genet. 53: 80-89.
    Goto Top Link to PudMed
  35. Macke,J.P., Hennessey,J.C., and Nathans,J. Rhodopsin mutation proline(347)-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. 1995; Hum.Mol.Genet. 4: 775-776.
    Goto Top Link to PudMed
  36. Martinez-Gimeno,M., Trujillo,M., Lorda,I., Gimenez,A., Calvo,M.T., Ayuso,C., and Carballo,M. Three novel mutations (P215L, T289P, and 3811-1A-G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families. 2000; Hum.Mutat.Online.
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    Human Mutation Online
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  38. Orth,U., Xu,S., Veske,A., Schwinger,E., Rosenberg,T., and Gal,A. Mutations in the gene for ?-PDE (?-subunit of photoreceptor cGMP phosphodiesterase) may cause either autosomal dominant congenital stationary night blindness or autosomal recessive Retinitis pigmentosa. 1994; Med.Gen. 6: 143-143.
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  39. Preising,M.N., Altrup,U., Puech,B., and Pawlowitzki,I.H. Characterization of a novel point mutation of the rhodopsin gene (Cys 167 Trp). 1997; Invest.Ophthalmol.Vis.Sci. 38: S798-S798
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  40. Reig,C., Antich,J., Gean,E., Dante Heredia,C., Valverde,D., Baiget,M., and Carballo,M. [Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa]. 1996; Med.Clin.Barc. 106: 219-221.
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  43. Rodriguez,J.A., Gannon,A.M., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. 1994; Am.J.Hum.Genet. (Suppl.): A239
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  44. Rodriguez,J.A., Herrera,C.A., Birch,D.G., and Daiger,S.P. A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa. 1993; Hum.Mutat. 2: 205-213.
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  47. Rüther,K., von Ballestrem,C.L., Müller,A., Kremmer,S., Eckstein,A., Apfelstedt-Sylla,E., Gal,A., Zrenner,E. Clinical features of autosomal dominant retinitis pigmentosa associated with the Ser 186 Trp mutation of rhodopsin. in Anderson,R.E., LaVail,M.M., Hollyfield,J.G., eds. Degenerative Diseases of the Retina. 1995; Plenum Press, New York, London: 34, p. 303-312.
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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