Scientific Newsletter
Mutations of Nyctalopin (NYX)
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of Nyctalopin (NYX) |
Recent update from: 18.03.2001
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| CSNB1 | 556del50ins3bp | 556 | 3 |
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(1)
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| CSNB1 | Microdeletion | 1 - 2 |
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(2)
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| CSNB1 | Microdeletion | 3 - 3'UTR |
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(2)
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| CSNB1 | 85del24bp | 0085 | 3 |
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(1)
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| CSNB1 | Cys 31 Ser | TGT-TCT | 0091 | 3 |
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(2)
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| CSNB1 | Cys 31 ter | TGC-TGA | 0105 | 3 |
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(2)
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| CSNB1 | Ile 101 del | del TCA | 0301 | 3 |
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(2)
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| CSNB1 | 340del15bp | 0340 | 3 |
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(2)
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| CSNB1 | Ala 143 Pro | GCA-CCA | 0427 | 3 |
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(2)
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| CSNB1 | Pro 151 Leu | C-T | 0452 | 3 |
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(1)
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| CSNB1 | 464ins21bp | 0464 | 3 |
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(1)
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| CSNB1 | Pro 175 Arg | CCG-CGG | 0524 | 3 |
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(2)
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| CSNB1 | Leu 184 Pro | T-C | 0551 | 3 |
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(1)
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| CSNB1 | Ala 187 Lys | GCG-AAG | 559 | 3 |
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(2)
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| CSNB1 | 619ins9bp | 0619 | 3 |
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(1)
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| CSNB1 | 207ins9bp | 0621 | 3 |
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(2)
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| CSNB1 | 628ins9bp | 0628 | 3 |
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(1)
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| CSNB1 | Leu 213 Gln | T-A | 0638 | 3 |
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(1)
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| CSNB1 | Asn 216 Ser | T-A | 0647 | 3 |
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(1)
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| CSNB1 | Leu 232 Pro | T-C | 0695 | 3 |
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(1)
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| CSNB1 | 243del12bp | 0727 | 3 |
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(2)
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| CSNB1 | Asn 264 Lys | C-G | 0792 | 3 |
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(1)
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| CSNB1 | Leu 285 Pro | T-C | 0854 | 3 |
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(1)
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| CSNB1 | Phe 298 Ser | T-C | 0893 | 3 |
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(1)
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| CSNB1 | Lu 307 Pro | CTG-CCG | 0920 | 3 |
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(2)
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| CSNB1 | Asn 321 Ser | AAC-AGC | 935 | 3 |
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(2)
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| CSNB1 | Leu 347 Pro | CTG-CCG | 1040 | 3 |
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(2)
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| CSNB1 | Trp 350 ter | G-A | 1049 | 3 |
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(1)
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| CSNB1 | Gly 370 Val | GGC-GTC | 1109 | 3 |
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(2)
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| CSNB1 | Microdeletion 326 bp | 1122 | 3 |
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(2)
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References
. Pusch,C.M., Zeitz,C., Brandau,O., Pesch,K., Achatz,H., Feil,S., Scharfe,C., Maurer,J., Jacobi,F.K., Pinckers,A., Andreasson,S., Hardcastle,A., Wissinger,B., Berger,W., and Meindl,A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 2000; Nat.Genet. 26: 324-327.
. Bech-Hansen,N.T., Naylor,M.J., Maybaum,T.A., Sparkes,R.L., Koop,B., Birch,D.G., Bergen,A.A., Prinsen,C.F., Polomeno,R.C., Gal,A., Drack,A.V., Musarella,M.A., Jacobson,S.G., Young,R.S., and Weleber,R.G. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 2000; Nat.Genet. 26: 319-323.
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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 |
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