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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
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  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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Dr. rer. medic. Markus Preising, Dipl.Biol.
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Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz