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Mutation Database
Mutations of the Usher Syndrome Type 3 Gene (USH3)

Recent update from: 18.08.2002


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




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


USH3 Met 44 Lys ATG - AAG 131 2
Compound:
  • Y100X


(1)
USH3 231delATTT ATA TTG TTT - A__ __G TTT 231 3
Homozygous

(1)
USH3 Tyr 100 ter TAT - TAG 300 3
Homozygous
Compound:
  • M44K
predominant mutation in Finish patients (52 homozygous)


(1)

References

  1. Joensuu,T., Hamalainen,R., Yuan,B., Johnson,C., Tegelberg,S., Gasparini,P., Zelante,L., Pirvola,U., Pakarinen,L., Lehesjoki,A.E., la Chapelle,A., and Sankila,E.M. Mutations in a novel gene with transmembrane domains underlie usher syndrome type 3. 2001; Am.J.Hum Genet. 69: 673-684.
    Link to PubMed
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This site is maintained and edited by
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