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Scientific Newsletter


Mutation Database
Mutations of the Cadherin-related Protein 23 Gene (CDH23)

Recent update from: 18.08.2002


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
DFNB12 Asp 188 Asn



Domain: EC2

(2)
DFNB12 Asp 1243 Asn



Domain: Cytoplasmic

(2)
DFNB12 Ile 1248 Asn



Domain: MPED
Compound:
  • R2154C


(2)
DFNB12 Asp 1400 Asn



Domain: EC14

(2)
DFNB12 Arg 2154 Cys



Domain: MPED
Compound:
  • I1248N


(2)
DFNB12 Pro 2257 Thr



Domain: Prox to TM

(2)
Sequence




The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


USH1D IVS51+5g-a gtgag - gtgaa
IVS51



(1)
USH1D IVS44+1g-a

IVS44
Domain: Cytoplasmic
Late onset of retinal degeneration


(2)
USH1D IVS23+1g-a

IVS23
Domain: EC12

(2)
USH1D Glu 492 ter



Domain: EC5

(2)
USH1D Arg 1305 ter



Domain: EC13

(2)
USH1D 3841delATG ATG ATG AAT - ATG ___ AAT 3841 31



(1)
USH1D Gln 1496 His CAG gtg - CAC gtg 4488 35



(1)
USH1D Arg 1746 Gln CAG - CGG 5237 40



(1)

References

  1. Bolz,H., von Brederlow,B., Ramirez,A., Bryda,E.C., Kutsche,K., Nothwang,H.G., Seeliger,M., del,C.-S., Vila,M.C., Molina,O.P., Gal,A., and Kubisch,C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 2001; Nat.Genet. 27: 108-112.
    Link to PubMed
    Goto Top

  2. Bork,J.M., Peters,L.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z.M., Ness,S.L., Polomeno,R., Ramesh,A., Schloss,M., Srisailpathy,C.R., Wayne,S., Bellman,S., Desmukh,D., Ahmed,Z., Khan,S.N., Kaloustian,V.M., Li,X.C., Lalwani,A., Riazuddin,S., Bitner-Glindzicz,M., Nance,W.E., Liu,X.Z., Wistow,G., Smith,R.J., Griffith,A.J., Wilcox,E.R., Friedman,T.B., and Morell,R.J. Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23. 2001; Am.J.Hum.Genet. 68: 26-37.
    Link to PubMed
    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