Scientific Newsletter Logo Retina International's

Scientific Newsletter

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

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
  • Y100X

USH3 231delATTT ATA TTG TTT - A__ __G TTT 231 3

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



  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
    Goto Top

Return to Retina International's
Scientific Newsletter
Return to
Mutation Database Page
Return to pagehead

Contact the editor
Return to
Database Page
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