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Scientific Newsletter


Mutation Database
Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene (IMPDH1)

Recent update from: 19.08.2002


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.


RP10 Arg 224 Pro CGC - CCC
07
Mutation affects the CBS2 domain
Hinders interaction with other retinal protein


(2)
RP10 Asp 226 Asn GAC - AAC 0676 07
Conserved in all IMPDH proteins
Not involved in catalytic activity


(1)
RP10 Val 268 Ile GTC - ATC 0802 07
Outside the CBS domain
Apart from active site


(1)

References

  1. Bowne,S.J., Sullivan,L.S., Blanton,S.H., Cepko,C.L., Blackshaw,S., Birch,D.G., Hughbanks-Wheaton,D., Heckenlively,J.R., and Daiger,S.P. Mutations in theo inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 2002; Hum.Mol.Genet. 11: 559-568.
    Link to PubMed
    Goto Top

  2. Kennan,A., Aherne,A., Palfi,A., Humphries,M., McKee,A., Stitt,A., Simpson,D.A., Demtroder,K., Orntoft,T., Ayuso,C., Kenna,P.F., Farrar,G.J., and Humphries,P. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(--/--) mice. 2002; Hum.Mol.Genet. 11: 547-558.
    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