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Mutation Database
Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)

Recent update from: 12.03.2003


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

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.



BBS7 Thr 211 Ile T - C
07
Homozygous
Consangiuneous
Complex inheritance with heterozygous BBS2L2 mutation E234K


(1)
BBS7 Lys 237 del4bp AAA AAG AGA - AAA ___ _GA
07
Homozygous
Consangiuneous


(1)
BBS7 His 323 Arg A - G
10
Homozygous


(1)

References

  1. Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
    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 Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz