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Scientific Newsletter


Mutation Database
 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)

Recent update from: 18.07.99

Blue Cone Pigment
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Tritanopia Gly 79 Arg GGA-AGA
1

CM920128 190900-0001 (6)
Tritanopia Val 171 Ile GTC-ATC



CM890023
(2)
Tritanopia Ile 178 Val ATT-GTT



CM890024
(2)
Tritanopia Cys 203 Arg CCG-CTG



CM930074
(3)
Tritanopia Ser 214 Pro TCC-CCC 1049


CM920131 190900-0002 (6)
Tritanopia Arg 247 ter CGA-TGA



CM930073
(3)
Tritanopia Pro 264 Ser CCC-TCC 1199 4

CM920130 190900-0003 (7)
Tritanopia Pro 307 Leu CCG-CTG



CM930074
(3)
Green Cone Pigment
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Trichromacy, deutan Cys 203 Arg TGC-CGC 648 4

CM920309 303800-0001 (8)
Red Cone Pigment
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Blue cone monochromacy Ser 180 Ala

4


303900-0002 (8)
Blue cone monochromacy Cys 203 Arg TGC-CGC 648 4
Mutation transferred from GCP into RCP by gene conversion CM951111 303900-0003 (8)
Blue cone monochromacy Arg 274 ter TCA-TGA




303900-0001 (3)
Blue cone monochromatism > rearrangements with GCP complex



goto HMGD
(4)
Blue Cone Monochromatism > 1.6 kb del incl. ex. 4

4

goto HGMD
(1)
Blue cone monochromatism Cys 203 Arg TGC-CGC 648 4

CM951092 303800-0002 (5)

References

1. Ladekjaer Mikkelsen, A.S., Rosenberg, T., and Jorgensen, A.L. A new mechanism in blue cone monochromatism. 1996; Hum.Genet. 98: 403 - 408.
Goto Top Link to PudMed

2. Nathans, J., Davenport, C.M., Maumenee, I.H., Lewis, R.A., Hejtmancik, J.F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., and et al. Molecular genetics of human blue cone monochromacy. 1989; Science. 245: 831 - 838.
Goto Top Link to PudMed

3. Nathans, J., Maumenee, I.H., Zrenner, E., Sadowski, B., Sharpe, L.T., Lewis, R.A., Hansen, E., Rosenberg, T., Schwartz, M., Heckenlively, J.R., and et al. Genetic heterogeneity among blue-cone monochromats. 1993; Am.J.Hum.Genet. 53: 987 - 1000.
Goto Top Link to PudMed

4. Neitz, J., Neitz, M., and Kainz, P.M. Visual pigment gene structure and the severity of color vision defects. 1996; Science. 274: 801 - 804.
Goto Top Link to PudMed

5. Reyniers, E., Vanthienen, M.N., Meire, F., Boulle, K., Devries, K., Kestelijn, P., and Willems, P.J. Gene conversion between red and defective green opsin gene in blue cone monochromacy. 1995; Genomics. 29: 323 - 328.
Goto Top Link to PudMed

6. Weitz, C.J., Miyake, Y., Shinzato, K., Montag, E., Zrenner, E., Went, L.N., and Nathans, J. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1992; Am.J.Hum.Genet. 50: 498 - 507.
Goto Top Link to PudMed

7. Weitz, C.J., Went, L.N., and Nathans, J. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment [letter]. 1992; Am.J.Hum.Genet. 51: 444 - 446.
Goto Top Link to PudMed

8. Winderickx, J., Battisti, L., Motulsky, A.G., and Deeb, S.S. Selective expression of human X chromosome-linked green opsin genes. 1992; Proc.Natl.Acad.Sci.U.S.A. 89: 9710 - 9714.
Goto Top Link to PudMed

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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