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Scientific Newsletter


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



(1)
CSNB1 Microdeletion

1 - 2



(2)
CSNB1 Microdeletion

3 - 3'UTR



(2)
CSNB1 85del24bp
0085 3



(1)
CSNB1 Cys 31 Ser TGT-TCT 0091 3



(2)
CSNB1 Cys 31 ter TGC-TGA 0105 3



(2)
CSNB1 Ile 101 del del TCA 0301 3



(2)
CSNB1 340del15bp
0340 3



(2)
CSNB1 Ala 143 Pro GCA-CCA 0427 3



(2)
CSNB1 Pro 151 Leu C-T 0452 3



(1)
CSNB1 464ins21bp
0464 3



(1)
CSNB1 Pro 175 Arg CCG-CGG 0524 3



(2)
CSNB1 Leu 184 Pro T-C 0551 3



(1)
CSNB1 Ala 187 Lys GCG-AAG 559 3



(2)
CSNB1 619ins9bp
0619 3



(1)
CSNB1 207ins9bp
0621 3



(2)
CSNB1 628ins9bp
0628 3



(1)
CSNB1 Leu 213 Gln T-A 0638 3



(1)
CSNB1 Asn 216 Ser T-A 0647 3



(1)
CSNB1 Leu 232 Pro T-C 0695 3



(1)
CSNB1 243del12bp
0727 3



(2)
CSNB1 Asn 264 Lys C-G 0792 3



(1)
CSNB1 Leu 285 Pro T-C 0854 3



(1)
CSNB1 Phe 298 Ser T-C 0893 3



(1)
CSNB1 Lu 307 Pro CTG-CCG 0920 3



(2)
CSNB1 Asn 321 Ser AAC-AGC 935 3



(2)
CSNB1 Leu 347 Pro CTG-CCG 1040 3



(2)
CSNB1 Trp 350 ter G-A 1049 3



(1)
CSNB1 Gly 370 Val GGC-GTC 1109 3



(2)
CSNB1 Microdeletion 326 bp
1122 3



(2)

References

  1. . 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.
    Link to PudMed
    Goto Top

  2. . 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.
    Link to PudMed
    Goto Top


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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